Canonical Allele Identifier: CA1701066

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70959962C>T , CM000664.2:g.70959962C>T	GRCh38
NC_000002.11:g.71187092C>T , CM000664.1:g.71187092C>T	GRCh37
NC_000002.10:g.71040600C>T	NCBI36
NG_008016.1:g.29095C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.469C>T (ATP6V1B1) MANE Select	NP_001683.2:p.Arg157Cys
ENST00000234396.10:c.469C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Arg157Cys
NM_001692.3:c.469C>T (ATP6V1B1)	NP_001683.2:p.Arg157Cys
ENST00000234396.8:c.469C>T (ATP6V1B1)	ENSP00000234396.4:p.Arg157Cys
ENST00000412314.5:c.469C>T (ATP6V1B1)	ENSP00000388353.1:p.Arg157Cys
ENST00000432098.1:c.109C>T (ATP6V1B1)	ENSP00000387599.1:p.Arg37Cys
ENST00000432098.2:n.635C>T (ATP6V1B1)
ENST00000432367.5:c.469C>T (ATP6V1B1)	ENSP00000405114.1:p.Arg157Cys
ENST00000432367.6:c.673C>T (VAX2)
ENST00000453130.1:c.143-11587G>A
ENST00000454446.5:c.520C>T (ATP6V1B1)	ENSP00000408361.1:p.Arg174Cys
ENST00000454446.6:c.469C>T (ATP6V1B1)	ENSP00000408361.2:p.Arg157Cys
ENST00000463380.1:n.570C>T (ATP6V1B1)
ENST00000495118.1:n.24C>T (ATP6V1B1)
ENST00000606025.5:c.476-17529G>A	ENSP00000475641.1:n.476-17529G>A
ENST00000646783.1:c.505C>T (VAX2)
XM_011532907.1:c.589C>T (ATP6V1B1)	XP_011531209.1:p.Arg197Cys
XM_011532907.2:c.589C>T (ATP6V1B1)	XP_011531209.1:p.Arg197Cys