Canonical Allele Identifier: CA185431

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70959020C>T , CM000664.2:g.70959020C>T	GRCh38
NC_000002.11:g.71186150C>T , CM000664.1:g.71186150C>T	GRCh37
NC_000002.10:g.71039658C>T	NCBI36
NG_008016.1:g.28153C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.370C>T (ATP6V1B1) MANE Select	NP_001683.2:p.Arg124Trp
ENST00000234396.10:c.370C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Arg124Trp
NM_001692.3:c.370C>T (ATP6V1B1)	NP_001683.2:p.Arg124Trp
ENST00000234396.8:c.370C>T (ATP6V1B1)	ENSP00000234396.4:p.Arg124Trp
ENST00000412314.5:c.370C>T (ATP6V1B1)	ENSP00000388353.1:p.Arg124Trp
ENST00000432098.1:c.10C>T (ATP6V1B1)	ENSP00000387599.1:p.Arg4Trp
ENST00000432098.2:n.536C>T (ATP6V1B1)
ENST00000432367.5:c.370C>T (ATP6V1B1)	ENSP00000405114.1:p.Arg124Trp
ENST00000432367.6:c.574C>T (VAX2)
ENST00000453130.1:c.143-10645G>A
ENST00000454446.5:c.421C>T (ATP6V1B1)	ENSP00000408361.1:p.Arg141Trp
ENST00000454446.6:c.370C>T (ATP6V1B1)	ENSP00000408361.2:p.Arg124Trp
ENST00000463380.1:n.471C>T (ATP6V1B1)
ENST00000606025.5:c.476-16587G>A	ENSP00000475641.1:n.476-16587G>A
ENST00000646783.1:c.406C>T (VAX2)
XM_011532907.1:c.490C>T (ATP6V1B1)	XP_011531209.1:p.Arg164Trp
XM_011532907.2:c.490C>T (ATP6V1B1)	XP_011531209.1:p.Arg164Trp