Canonical Allele Identifier: CA1259810639
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70958085G= , CM000664.2:g.70958085G= GRCh38
NC_000002.11:g.71185215G= , CM000664.1:g.71185215G= GRCh37
NC_000002.10:g.71038723G= NCBI36
NG_008016.1:g.27218G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000234396.10:c.214G= (ATP6V1B1) MANE Select ENSP00000234396.4:p.Asp72=
ENST00000432098.2:n.380G= (ATP6V1B1)
ENST00000432367.6:c.418G= (VAX2)
ENST00000454446.6:c.214G= (ATP6V1B1) ENSP00000408361.2:p.Asp72=
ENST00000646783.1:c.250G= (VAX2)
ENST00000234396.8:c.214G= (ATP6V1B1) ENSP00000234396.4:p.Asp72=
ENST00000412314.5:c.214G= (ATP6V1B1) ENSP00000388353.1:p.Asp72=
ENST00000432098.1:c.-147G= (ATP6V1B1) ENSP00000387599.1:n.-147G=
ENST00000432367.5:c.214G= (ATP6V1B1) ENSP00000405114.1:p.Asp72=
ENST00000453130.1:c.143-9710C=
ENST00000454446.5:c.265G= (ATP6V1B1) ENSP00000408361.1:p.Asp89=
ENST00000463380.1:n.315G= (ATP6V1B1)
ENST00000606025.5:c.476-15652C= ENSP00000475641.1:n.476-15652C=
NM_001692.3:c.214G= (ATP6V1B1) NP_001683.2:p.Asp72=
XM_011532907.1:c.334G= (ATP6V1B1) XP_011531209.1:p.Asp112=
NM_001692.4:c.214G= (ATP6V1B1) MANE Select NP_001683.2:p.Asp72=
XM_011532907.2:c.334G= (ATP6V1B1) XP_011531209.1:p.Asp112=