Canonical Allele Identifier: CA426685423

Gene: ATP6V1B1 VAX2 ATP6V1B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70943686G>A , CM000664.2:g.70943686G>A	GRCh38
NC_000002.11:g.71170816G>A , CM000664.1:g.71170816G>A	GRCh37
NC_000002.10:g.71024324G>A	NCBI36
NG_008016.1:g.12819G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.147G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Gly49=
ENST00000234396.10:c.147G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gly49=
NM_001692.3:c.147G>A (ATP6V1B1)	NP_001683.2:p.Gly49=
NR_110273.1:n.524-1253C>T (ATP6V1B1-AS1)
NR_110274.1:n.386-1253C>T (ATP6V1B1-AS1)
ENST00000234396.8:c.147G>A (ATP6V1B1)	ENSP00000234396.4:p.Gly49=
ENST00000412314.5:c.147G>A (ATP6V1B1)	ENSP00000388353.1:p.Gly49=
ENST00000432098.1:c.-214G>A (ATP6V1B1)	ENSP00000387599.1:n.-214G>A
ENST00000432098.2:n.313G>A (ATP6V1B1)
ENST00000432367.5:c.147G>A (ATP6V1B1)	ENSP00000405114.1:p.Gly49=
ENST00000432367.6:c.351G>A (VAX2)
ENST00000454446.5:c.198G>A (ATP6V1B1)	ENSP00000408361.1:p.Gly66=
ENST00000454446.6:c.147G>A (ATP6V1B1)	ENSP00000408361.2:p.Gly49=
ENST00000606025.5:c.476-1253C>T	ENSP00000475641.1:n.476-1253C>T
ENST00000646783.1:c.183G>A (VAX2)