Canonical Allele Identifier: CA347181517

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70959053A>T , CM000664.2:g.70959053A>T	GRCh38
NC_000002.11:g.71186183A>T , CM000664.1:g.71186183A>T	GRCh37
NC_000002.10:g.71039691A>T	NCBI36
NG_008016.1:g.28186A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.403A>T (ATP6V1B1) MANE Select	NP_001683.2:p.Lys135Ter
ENST00000234396.10:c.403A>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Lys135Ter
NM_001692.3:c.403A>T (ATP6V1B1)	NP_001683.2:p.Lys135Ter
ENST00000234396.8:c.403A>T (ATP6V1B1)	ENSP00000234396.4:p.Lys135Ter
ENST00000412314.5:c.403A>T (ATP6V1B1)	ENSP00000388353.1:p.Lys135Ter
ENST00000432098.1:c.43A>T (ATP6V1B1)	ENSP00000387599.1:p.Lys15Ter
ENST00000432098.2:n.569A>T (ATP6V1B1)
ENST00000432367.5:c.403A>T (ATP6V1B1)	ENSP00000405114.1:p.Lys135Ter
ENST00000432367.6:c.607A>T (VAX2)
ENST00000453130.1:c.143-10678T>A
ENST00000454446.5:c.454A>T (ATP6V1B1)	ENSP00000408361.1:p.Lys152Ter
ENST00000454446.6:c.403A>T (ATP6V1B1)	ENSP00000408361.2:p.Lys135Ter
ENST00000463380.1:n.504A>T (ATP6V1B1)
ENST00000606025.5:c.476-16620T>A	ENSP00000475641.1:n.476-16620T>A
ENST00000646783.1:c.439A>T (VAX2)
XM_011532907.1:c.523A>T (ATP6V1B1)	XP_011531209.1:p.Lys175Ter
XM_011532907.2:c.523A>T (ATP6V1B1)	XP_011531209.1:p.Lys175Ter