Canonical Allele Identifier: CA1701326

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70964763G>A , CM000664.2:g.70964763G>A	GRCh38
NC_000002.11:g.71191893G>A , CM000664.1:g.71191893G>A	GRCh37
NC_000002.10:g.71045401G>A	NCBI36
NG_008016.1:g.33896G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.1276G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Val426Met
ENST00000234396.10:c.1276G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Val426Met
NM_001692.3:c.1276G>A (ATP6V1B1)	NP_001683.2:p.Val426Met
ENST00000234396.8:c.1276G>A (ATP6V1B1)	ENSP00000234396.4:p.Val426Met
ENST00000412314.5:c.1225G>A (ATP6V1B1)	ENSP00000388353.1:p.Val409Met
ENST00000432367.5:c.*554G>A (ATP6V1B1)	ENSP00000405114.1:n.*554G>A
ENST00000432367.6:c.1329G>A (VAX2)
ENST00000433895.1:c.91G>A (ATP6V1B1)	ENSP00000407840.1:p.Val31Met
ENST00000433895.2:c.208G>A (ATP6V1B1)	ENSP00000407840.2:p.Val70Met
ENST00000453130.1:c.143-16388C>T
ENST00000606025.5:c.476-22330C>T	ENSP00000475641.1:n.476-22330C>T
XM_011532907.1:c.1396G>A (ATP6V1B1)	XP_011531209.1:p.Val466Met
XM_011532907.2:c.1396G>A (ATP6V1B1)	XP_011531209.1:p.Val466Met