Canonical Allele Identifier: CA133786
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.70959974G>A
GRCh37 chr2:g.71187104G>A
Revel Score:
ENST00000234396 (MANE Select) 0.245
ENST00000483246 0.245
ENST00000412314 0.245
ENST00000454446 0.245
ENST00000432098 0.245
gnomAD v2:
2:71187104 G / A
gnomAD v3:
2:70959974 G / A
gnomAD v4:
chr2-70959974-G-A
Joint Max Group AF 0.06937903 (SAS)
Genomes Max Group AF 0.05852699 (SAS)
Exomes Max Group AF 0.0696936 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70959974G>A , CM000664.2:g.70959974G>A GRCh38
NC_000002.11:g.71187104G>A , CM000664.1:g.71187104G>A GRCh37
NC_000002.10:g.71040612G>A NCBI36
NG_008016.1:g.29107G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234396.10:c.481G>A (ATP6V1B1) MANE Select ENSP00000234396.4:p.Glu161Lys
ENST00000432098.2:n.647G>A (ATP6V1B1)
ENST00000432367.6:c.685G>A (VAX2)
ENST00000454446.6:c.481G>A (ATP6V1B1) ENSP00000408361.2:p.Glu161Lys
ENST00000646783.1:c.517G>A (VAX2)
ENST00000234396.8:c.481G>A (ATP6V1B1) ENSP00000234396.4:p.Glu161Lys
ENST00000412314.5:c.481G>A (ATP6V1B1) ENSP00000388353.1:p.Glu161Lys
ENST00000432098.1:c.121G>A (ATP6V1B1) ENSP00000387599.1:p.Glu41Lys
ENST00000432367.5:c.481G>A (ATP6V1B1) ENSP00000405114.1:p.Glu161Lys
ENST00000453130.1:c.143-11599C>T
ENST00000454446.5:c.532G>A (ATP6V1B1) ENSP00000408361.1:p.Glu178Lys
ENST00000495118.1:n.36G>A (ATP6V1B1)
ENST00000606025.5:c.476-17541C>T ENSP00000475641.1:n.476-17541C>T
NM_001692.3:c.481G>A (ATP6V1B1) NP_001683.2:p.Glu161Lys
XM_011532907.1:c.601G>A (ATP6V1B1) XP_011531209.1:p.Glu201Lys
NM_001692.4:c.481G>A (ATP6V1B1) MANE Select NP_001683.2:p.Glu161Lys
XM_011532907.2:c.601G>A (ATP6V1B1) XP_011531209.1:p.Glu201Lys
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