Canonical Allele Identifier: CA1701111

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70960947G>A , CM000664.2:g.70960947G>A	GRCh38
NC_000002.11:g.71188077G>A , CM000664.1:g.71188077G>A	GRCh37
NC_000002.10:g.71041585G>A	NCBI36
NG_008016.1:g.30080G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.612G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Ala204=
ENST00000234396.10:c.612G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Ala204=
NM_001692.3:c.612G>A (ATP6V1B1)	NP_001683.2:p.Ala204=
ENST00000234396.8:c.612G>A (ATP6V1B1)	ENSP00000234396.4:p.Ala204=
ENST00000412314.5:c.612G>A (ATP6V1B1)	ENSP00000388353.1:p.Ala204=
ENST00000432098.2:n.778G>A (ATP6V1B1)
ENST00000432367.5:c.612G>A (ATP6V1B1)	ENSP00000405114.1:p.Ala204=
ENST00000432367.6:c.816G>A (VAX2)
ENST00000453130.1:c.143-12572C>T
ENST00000454446.5:c.663G>A (ATP6V1B1)	ENSP00000408361.1:p.Ala221=
ENST00000454446.6:c.612G>A (ATP6V1B1)	ENSP00000408361.2:p.Ala204=
ENST00000495118.1:n.167G>A (ATP6V1B1)
ENST00000606025.5:c.476-18514C>T	ENSP00000475641.1:n.476-18514C>T
ENST00000646783.1:c.648G>A (VAX2)
XM_011532907.1:c.732G>A (ATP6V1B1)	XP_011531209.1:p.Ala244=
XM_011532907.2:c.732G>A (ATP6V1B1)	XP_011531209.1:p.Ala244=