Canonical Allele Identifier: CA347187661

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70964475G>A , CM000664.2:g.70964475G>A	GRCh38
NC_000002.11:g.71191605G>A , CM000664.1:g.71191605G>A	GRCh37
NC_000002.10:g.71045113G>A	NCBI36
NG_008016.1:g.33608G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.1181G>A (ATP6V1B1) MANE Select	NP_001683.2:p.Arg394Gln
ENST00000234396.10:c.1181G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Arg394Gln
NM_001692.3:c.1181G>A (ATP6V1B1)	NP_001683.2:p.Arg394Gln
ENST00000234396.8:c.1181G>A (ATP6V1B1)	ENSP00000234396.4:p.Arg394Gln
ENST00000412314.5:c.1130G>A (ATP6V1B1)	ENSP00000388353.1:p.Arg377Gln
ENST00000432367.5:c.*459G>A (ATP6V1B1)	ENSP00000405114.1:n.*459G>A
ENST00000432367.6:c.1234G>A (VAX2)
ENST00000433895.1:c.-5G>A (ATP6V1B1)	ENSP00000407840.1:n.-5G>A
ENST00000433895.2:c.113G>A (ATP6V1B1)	ENSP00000407840.2:p.Arg38Gln
ENST00000453130.1:c.143-16100C>T
ENST00000606025.5:c.476-22042C>T	ENSP00000475641.1:n.476-22042C>T
XM_011532907.1:c.1301G>A (ATP6V1B1)	XP_011531209.1:p.Arg434Gln
XM_011532907.2:c.1301G>A (ATP6V1B1)	XP_011531209.1:p.Arg434Gln