Canonical Allele Identifier: CA1259810643
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70958094C= , CM000664.2:g.70958094C= GRCh38
NC_000002.11:g.71185224C= , CM000664.1:g.71185224C= GRCh37
NC_000002.10:g.71038732C= NCBI36
NG_008016.1:g.27227C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000234396.10:c.223C= (ATP6V1B1) MANE Select ENSP00000234396.4:p.Gln75=
ENST00000432098.2:n.389C= (ATP6V1B1)
ENST00000432367.6:c.427C= (VAX2)
ENST00000454446.6:c.223C= (ATP6V1B1) ENSP00000408361.2:p.Gln75=
ENST00000646783.1:c.259C= (VAX2)
ENST00000234396.8:c.223C= (ATP6V1B1) ENSP00000234396.4:p.Gln75=
ENST00000412314.5:c.223C= (ATP6V1B1) ENSP00000388353.1:p.Gln75=
ENST00000432098.1:c.-138C= (ATP6V1B1) ENSP00000387599.1:n.-138C=
ENST00000432367.5:c.223C= (ATP6V1B1) ENSP00000405114.1:p.Gln75=
ENST00000453130.1:c.143-9719G=
ENST00000454446.5:c.274C= (ATP6V1B1) ENSP00000408361.1:p.Gln92=
ENST00000463380.1:n.324C= (ATP6V1B1)
ENST00000606025.5:c.476-15661G= ENSP00000475641.1:n.476-15661G=
NM_001692.3:c.223C= (ATP6V1B1) NP_001683.2:p.Gln75=
XM_011532907.1:c.343C= (ATP6V1B1) XP_011531209.1:p.Gln115=
NM_001692.4:c.223C= (ATP6V1B1) MANE Select NP_001683.2:p.Gln75=
XM_011532907.2:c.343C= (ATP6V1B1) XP_011531209.1:p.Gln115=