Canonical Allele Identifier: CA347185483

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70963177G>T , CM000664.2:g.70963177G>T	GRCh38
NC_000002.11:g.71190307G>T , CM000664.1:g.71190307G>T	GRCh37
NC_000002.10:g.71043815G>T	NCBI36
NG_008016.1:g.32310G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.925G>T (ATP6V1B1) MANE Select	NP_001683.2:p.Glu309Ter
ENST00000234396.10:c.925G>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Glu309Ter
NM_001692.3:c.925G>T (ATP6V1B1)	NP_001683.2:p.Glu309Ter
ENST00000234396.8:c.925G>T (ATP6V1B1)	ENSP00000234396.4:p.Glu309Ter
ENST00000412314.5:c.925G>T (ATP6V1B1)	ENSP00000388353.1:p.Glu309Ter
ENST00000432367.5:c.*203G>T (ATP6V1B1)	ENSP00000405114.1:n.*203G>T
ENST00000432367.6:c.1113+277G>T (VAX2)
ENST00000453130.1:c.143-14802C>A
ENST00000606025.5:c.476-20744C>A	ENSP00000475641.1:n.476-20744C>A
ENST00000646783.1:c.961G>T (VAX2)
XM_011532907.1:c.1045G>T (ATP6V1B1)	XP_011531209.1:p.Glu349Ter
XM_011532907.2:c.1045G>T (ATP6V1B1)	XP_011531209.1:p.Glu349Ter