Canonical Allele Identifier: CA1701209

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70963195C>T , CM000664.2:g.70963195C>T	GRCh38
NC_000002.11:g.71190325C>T , CM000664.1:g.71190325C>T	GRCh37
NC_000002.10:g.71043833C>T	NCBI36
NG_008016.1:g.32328C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.943C>T (ATP6V1B1) MANE Select	NP_001683.2:p.Arg315Ter
ENST00000234396.10:c.943C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Arg315Ter
NM_001692.3:c.943C>T (ATP6V1B1)	NP_001683.2:p.Arg315Ter
ENST00000234396.8:c.943C>T (ATP6V1B1)	ENSP00000234396.4:p.Arg315Ter
ENST00000412314.5:c.943C>T (ATP6V1B1)	ENSP00000388353.1:p.Arg315Ter
ENST00000432367.5:c.*221C>T (ATP6V1B1)	ENSP00000405114.1:n.*221C>T
ENST00000432367.6:c.1113+295C>T (VAX2)
ENST00000453130.1:c.143-14820G>A
ENST00000606025.5:c.476-20762G>A	ENSP00000475641.1:n.476-20762G>A
ENST00000646783.1:c.979C>T (VAX2)
XM_011532907.1:c.1063C>T (ATP6V1B1)	XP_011531209.1:p.Arg355Ter
XM_011532907.2:c.1063C>T (ATP6V1B1)	XP_011531209.1:p.Arg355Ter