Canonical Allele Identifier: CA347181906

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70959977G>T , CM000664.2:g.70959977G>T	GRCh38
NC_000002.11:g.71187107G>T , CM000664.1:g.71187107G>T	GRCh37
NC_000002.10:g.71040615G>T	NCBI36
NG_008016.1:g.29110G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.484G>T (ATP6V1B1) MANE Select	NP_001683.2:p.Glu162Ter
ENST00000234396.10:c.484G>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Glu162Ter
NM_001692.3:c.484G>T (ATP6V1B1)	NP_001683.2:p.Glu162Ter
ENST00000234396.8:c.484G>T (ATP6V1B1)	ENSP00000234396.4:p.Glu162Ter
ENST00000412314.5:c.484G>T (ATP6V1B1)	ENSP00000388353.1:p.Glu162Ter
ENST00000432098.1:c.124G>T (ATP6V1B1)	ENSP00000387599.1:p.Glu42Ter
ENST00000432098.2:n.650G>T (ATP6V1B1)
ENST00000432367.5:c.484G>T (ATP6V1B1)	ENSP00000405114.1:p.Glu162Ter
ENST00000432367.6:c.688G>T (VAX2)
ENST00000453130.1:c.143-11602C>A
ENST00000454446.5:c.535G>T (ATP6V1B1)	ENSP00000408361.1:p.Glu179Ter
ENST00000454446.6:c.484G>T (ATP6V1B1)	ENSP00000408361.2:p.Glu162Ter
ENST00000495118.1:n.39G>T (ATP6V1B1)
ENST00000606025.5:c.476-17544C>A	ENSP00000475641.1:n.476-17544C>A
ENST00000646783.1:c.520G>T (VAX2)
XM_011532907.1:c.604G>T (ATP6V1B1)	XP_011531209.1:p.Glu202Ter
XM_011532907.2:c.604G>T (ATP6V1B1)	XP_011531209.1:p.Glu202Ter