Canonical Allele Identifier: CA1701076

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70960010G>A , CM000664.2:g.70960010G>A	GRCh38
NC_000002.11:g.71187140G>A , CM000664.1:g.71187140G>A	GRCh37
NC_000002.10:g.71040648G>A	NCBI36
NG_008016.1:g.29143G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.517G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Val173Ile
ENST00000234396.10:c.517G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Val173Ile
NM_001692.3:c.517G>A (ATP6V1B1)	NP_001683.2:p.Val173Ile
ENST00000234396.8:c.517G>A (ATP6V1B1)	ENSP00000234396.4:p.Val173Ile
ENST00000412314.5:c.517G>A (ATP6V1B1)	ENSP00000388353.1:p.Val173Ile
ENST00000432098.1:c.157G>A (ATP6V1B1)	ENSP00000387599.1:p.Val53Ile
ENST00000432098.2:n.683G>A (ATP6V1B1)
ENST00000432367.5:c.517G>A (ATP6V1B1)	ENSP00000405114.1:p.Val173Ile
ENST00000432367.6:c.721G>A (VAX2)
ENST00000453130.1:c.143-11635C>T
ENST00000454446.5:c.568G>A (ATP6V1B1)	ENSP00000408361.1:p.Val190Ile
ENST00000454446.6:c.517G>A (ATP6V1B1)	ENSP00000408361.2:p.Val173Ile
ENST00000495118.1:n.72G>A (ATP6V1B1)
ENST00000606025.5:c.476-17577C>T	ENSP00000475641.1:n.476-17577C>T
ENST00000646783.1:c.553G>A (VAX2)
XM_011532907.1:c.637G>A (ATP6V1B1)	XP_011531209.1:p.Val213Ile
XM_011532907.2:c.637G>A (ATP6V1B1)	XP_011531209.1:p.Val213Ile