Canonical Allele Identifier: CA10613895

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70964795G>A , CM000664.2:g.70964795G>A	GRCh38
NC_000002.11:g.71191925G>A , CM000664.1:g.71191925G>A	GRCh37
NC_000002.10:g.71045433G>A	NCBI36
NG_008016.1:g.33928G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.1308G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Glu436=
ENST00000234396.10:c.1308G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Glu436=
NM_001692.3:c.1308G>A (ATP6V1B1)	NP_001683.2:p.Glu436=
ENST00000234396.8:c.1308G>A (ATP6V1B1)	ENSP00000234396.4:p.Glu436=
ENST00000412314.5:c.1257G>A (ATP6V1B1)	ENSP00000388353.1:p.Glu419=
ENST00000432367.5:c.*586G>A (ATP6V1B1)	ENSP00000405114.1:n.*586G>A
ENST00000432367.6:c.1361G>A (VAX2)
ENST00000433895.1:c.123G>A (ATP6V1B1)	ENSP00000407840.1:p.Glu41=
ENST00000433895.2:c.240G>A (ATP6V1B1)	ENSP00000407840.2:p.Glu80=
ENST00000453130.1:c.143-16420C>T
ENST00000606025.5:c.476-22362C>T	ENSP00000475641.1:n.476-22362C>T
XM_011532907.1:c.1428G>A (ATP6V1B1)	XP_011531209.1:p.Glu476=
XM_011532907.2:c.1428G>A (ATP6V1B1)	XP_011531209.1:p.Glu476=