Canonical Allele Identifier: CA121986
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12229
dbSNP Id: rs121964881
gnomAD v2: 2-71185233-G-A
gnomAD v3: 2-70958103-G-A
gnomAD v4: 2-70958103-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70958103G>A , CM000664.2:g.70958103G>A GRCh38
NC_000002.11:g.71185233G>A , CM000664.1:g.71185233G>A GRCh37
NC_000002.10:g.71038741G>A NCBI36
NG_008016.1:g.27236G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000234396.10:c.232G>A (ATP6V1B1) MANE Select ENSP00000234396.4:p.Gly78Arg
ENST00000432098.2:n.398G>A (ATP6V1B1)
ENST00000432367.6:c.436G>A (VAX2)
ENST00000454446.6:c.232G>A (ATP6V1B1) ENSP00000408361.2:p.Gly78Arg
ENST00000646783.1:c.268G>A (VAX2)
ENST00000234396.8:c.232G>A (ATP6V1B1) ENSP00000234396.4:p.Gly78Arg
ENST00000412314.5:c.232G>A (ATP6V1B1) ENSP00000388353.1:p.Gly78Arg
ENST00000432098.1:c.-129G>A (ATP6V1B1) ENSP00000387599.1:n.-129G>A
ENST00000432367.5:c.232G>A (ATP6V1B1) ENSP00000405114.1:p.Gly78Arg
ENST00000453130.1:c.143-9728C>T
ENST00000454446.5:c.283G>A (ATP6V1B1) ENSP00000408361.1:p.Gly95Arg
ENST00000463380.1:n.333G>A (ATP6V1B1)
ENST00000606025.5:c.476-15670C>T ENSP00000475641.1:n.476-15670C>T
NM_001692.3:c.232G>A (ATP6V1B1) NP_001683.2:p.Gly78Arg
XM_011532907.1:c.352G>A (ATP6V1B1) XP_011531209.1:p.Gly118Arg
NM_001692.4:c.232G>A (ATP6V1B1) MANE Select NP_001683.2:p.Gly78Arg
XM_011532907.2:c.352G>A (ATP6V1B1) XP_011531209.1:p.Gly118Arg