Canonical Allele Identifier: CA347178456

Gene: ATP6V1B1 VAX2 ATP6V1B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70943662C>A , CM000664.2:g.70943662C>A	GRCh38
NC_000002.11:g.71170792C>A , CM000664.1:g.71170792C>A	GRCh37
NC_000002.10:g.71024300C>A	NCBI36
NG_008016.1:g.12795C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.123C>A (ATP6V1B1) MANE Select	NP_001683.2:p.Tyr41Ter
ENST00000234396.10:c.123C>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Tyr41Ter
NM_001692.3:c.123C>A (ATP6V1B1)	NP_001683.2:p.Tyr41Ter
NR_110273.1:n.524-1229G>T (ATP6V1B1-AS1)
NR_110274.1:n.386-1229G>T (ATP6V1B1-AS1)
ENST00000234396.8:c.123C>A (ATP6V1B1)	ENSP00000234396.4:p.Tyr41Ter
ENST00000412314.5:c.123C>A (ATP6V1B1)	ENSP00000388353.1:p.Tyr41Ter
ENST00000432098.1:c.-238C>A (ATP6V1B1)	ENSP00000387599.1:n.-238C>A
ENST00000432098.2:n.289C>A (ATP6V1B1)
ENST00000432367.5:c.123C>A (ATP6V1B1)	ENSP00000405114.1:p.Tyr41Ter
ENST00000432367.6:c.327C>A (VAX2)
ENST00000454446.5:c.174C>A (ATP6V1B1)	ENSP00000408361.1:p.Tyr58Ter
ENST00000454446.6:c.123C>A (ATP6V1B1)	ENSP00000408361.2:p.Tyr41Ter
ENST00000606025.5:c.476-1229G>T	ENSP00000475641.1:n.476-1229G>T
ENST00000646783.1:c.159C>A (VAX2)