Canonical Allele Identifier: CA1259810622
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70958049G= , CM000664.2:g.70958049G= GRCh38
NC_000002.11:g.71185179G= , CM000664.1:g.71185179G= GRCh37
NC_000002.10:g.71038687G= NCBI36
NG_008016.1:g.27182G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000234396.10:c.178G= (ATP6V1B1) MANE Select ENSP00000234396.4:p.Ala60=
ENST00000432098.2:n.344G= (ATP6V1B1)
ENST00000432367.6:c.382G= (VAX2)
ENST00000454446.6:c.178G= (ATP6V1B1) ENSP00000408361.2:p.Ala60=
ENST00000646783.1:c.214G= (VAX2)
ENST00000234396.8:c.178G= (ATP6V1B1) ENSP00000234396.4:p.Ala60=
ENST00000412314.5:c.178G= (ATP6V1B1) ENSP00000388353.1:p.Ala60=
ENST00000432098.1:c.-183G= (ATP6V1B1) ENSP00000387599.1:n.-183G=
ENST00000432367.5:c.178G= (ATP6V1B1) ENSP00000405114.1:p.Ala60=
ENST00000453130.1:c.143-9674C=
ENST00000454446.5:c.229G= (ATP6V1B1) ENSP00000408361.1:p.Ala77=
ENST00000463380.1:n.279G= (ATP6V1B1)
ENST00000606025.5:c.476-15616C= ENSP00000475641.1:n.476-15616C=
NM_001692.3:c.178G= (ATP6V1B1) NP_001683.2:p.Ala60=
XM_011532907.1:c.298G= (ATP6V1B1) XP_011531209.1:p.Ala100=
NM_001692.4:c.178G= (ATP6V1B1) MANE Select NP_001683.2:p.Ala60=
XM_011532907.2:c.298G= (ATP6V1B1) XP_011531209.1:p.Ala100=