Canonical Allele Identifier: CA1701120

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70961005G>A , CM000664.2:g.70961005G>A	GRCh38
NC_000002.11:g.71188135G>A , CM000664.1:g.71188135G>A	GRCh37
NC_000002.10:g.71041643G>A	NCBI36
NG_008016.1:g.30138G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.670G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Val224Ile
ENST00000234396.10:c.670G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Val224Ile
NM_001692.3:c.670G>A (ATP6V1B1)	NP_001683.2:p.Val224Ile
ENST00000234396.8:c.670G>A (ATP6V1B1)	ENSP00000234396.4:p.Val224Ile
ENST00000412314.5:c.670G>A (ATP6V1B1)	ENSP00000388353.1:p.Val224Ile
ENST00000432098.2:n.836G>A (ATP6V1B1)
ENST00000432367.5:c.670G>A (ATP6V1B1)	ENSP00000405114.1:p.Val224Ile
ENST00000432367.6:c.874G>A (VAX2)
ENST00000453130.1:c.143-12630C>T
ENST00000454446.5:c.721G>A (ATP6V1B1)	ENSP00000408361.1:p.Val241Ile
ENST00000454446.6:c.670G>A (ATP6V1B1)	ENSP00000408361.2:p.Val224Ile
ENST00000495118.1:n.225G>A (ATP6V1B1)
ENST00000606025.5:c.476-18572C>T	ENSP00000475641.1:n.476-18572C>T
ENST00000646783.1:c.706G>A (VAX2)
XM_011532907.1:c.790G>A (ATP6V1B1)	XP_011531209.1:p.Val264Ile
XM_011532907.2:c.790G>A (ATP6V1B1)	XP_011531209.1:p.Val264Ile