Canonical Allele Identifier: CA1701229

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70963289C>G , CM000664.2:g.70963289C>G	GRCh38
NC_000002.11:g.71190419C>G , CM000664.1:g.71190419C>G	GRCh37
NC_000002.10:g.71043927C>G	NCBI36
NG_008016.1:g.32422C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.1037C>G (ATP6V1B1) MANE Select	NP_001683.2:p.Pro346Arg
ENST00000234396.10:c.1037C>G (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Pro346Arg
NM_001692.3:c.1037C>G (ATP6V1B1)	NP_001683.2:p.Pro346Arg
ENST00000234396.8:c.1037C>G (ATP6V1B1)	ENSP00000234396.4:p.Pro346Arg
ENST00000412314.5:c.1009+28C>G (ATP6V1B1)	ENSP00000388353.1:n.1009+28C>G
ENST00000432367.5:c.*315C>G (ATP6V1B1)	ENSP00000405114.1:n.*315C>G
ENST00000432367.6:c.1114-283C>G (VAX2)
ENST00000453130.1:c.143-14914G>C
ENST00000606025.5:c.476-20856G>C	ENSP00000475641.1:n.476-20856G>C
ENST00000646783.1:c.1073C>G (VAX2)
XM_011532907.1:c.1157C>G (ATP6V1B1)	XP_011531209.1:p.Pro386Arg
XM_011532907.2:c.1157C>G (ATP6V1B1)	XP_011531209.1:p.Pro386Arg