Classification
Category 5
premature_stop
CMH MAF
18 /
11422 samples
(0.158%)
18 het.,
0 hom.
(100%)
18 /
22844 total alleles
(0.0788%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: ALPL
synonym(s): AP-TNAP, APTNAP, HOPS, TNAP, TNSALP, ALPL, ENSG00000162551
ENST00000374840.3
[CDS]
Reportable
hgvs_c: ENST00000374840.3:c.1574del
reference AA: *
variant AA: X
reference codon: tGa
variant codon: ta
cDNA pos: 1824
CDS pos: 1574
translation impact: premature_stop
protein sequence:
ENSP00000363973.3
AA pos: 525
hgvs_p: ENSP00000363973.3:p.Ter525=
blosum: -4
ENST00000539907.1
[CDS]
hgvs_c: ENST00000539907.1:c.1343del
reference AA: *
variant AA: X
reference codon: tGa
variant codon: ta
cDNA pos: 1550
CDS pos: 1343
translation impact: premature_stop
protein sequence:
ENSP00000437674.1
AA pos: 448
hgvs_p: ENSP00000437674.1:p.Ter448=
blosum: -4
ENST00000540617.1
[CDS]
hgvs_c: ENST00000540617.1:c.1409del
reference AA: *
variant AA: X
reference codon: tGa
variant codon: ta
cDNA pos: 1666
CDS pos: 1409
translation impact: premature_stop
protein sequence:
ENSP00000442672.1
AA pos: 470
hgvs_p: ENSP00000442672.1:p.Ter470=
blosum: -4
dbSNP
rs764994176
TOPMED_MAF = 0.00037429918450560
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000618,0.000241,0.000490
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
1 / 6046 |
0.0165% |
| America/Latino |
9 / 8988 |
0.1% |
| East Asian |
0 / 6378 |
0% |
| Finnish |
0 / 4244 |
0% |
| Non-Finnish |
24 / 47192 |
0.0509% |
| Other |
0 / 638 |
0% |
| South Asian |
0 / 13630 |
0% |
| Total MAF |
34 / 87116 |
0.039% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 22032 |
0% |
| America/Latino |
18 / 33898 |
0.0531% |
| Ashkenazi Jewish |
0 / 9808 |
0% |
| East Asian |
0 / 18304 |
0% |
| Finnish |
0 / 15954 |
0% |
| Non-Finnish |
62 / 118914 |
0.0521% |
| Other |
1 / 6154 |
0.0162% |
| South Asian |
0 / 29890 |
0% |
| Total MAF |
81 / 254954 |
0.0318% |
Export Variant