Canonical Allele Identifier: CA347183011

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70961023G>C , CM000664.2:g.70961023G>C	GRCh38
NC_000002.11:g.71188153G>C , CM000664.1:g.71188153G>C	GRCh37
NC_000002.10:g.71041661G>C	NCBI36
NG_008016.1:g.30156G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.687+1G>C (ATP6V1B1) MANE Select	NP_001683.2:n.687+1G>C
ENST00000234396.10:c.687+1G>C (ATP6V1B1) MANE Select	ENSP00000234396.4:n.687+1G>C
NM_001692.3:c.687+1G>C (ATP6V1B1)	NP_001683.2:n.687+1G>C
ENST00000234396.8:c.687+1G>C (ATP6V1B1)	ENSP00000234396.4:n.687+1G>C
ENST00000412314.5:c.687+1G>C (ATP6V1B1)	ENSP00000388353.1:n.687+1G>C
ENST00000432367.5:c.688G>C (ATP6V1B1)	ENSP00000405114.1:p.Val230Leu
ENST00000432367.6:c.891+1G>C (VAX2)
ENST00000453130.1:c.143-12648C>G
ENST00000454446.5:c.739G>C (ATP6V1B1)	ENSP00000408361.1:p.Val247Leu
ENST00000454446.6:c.688G>C (ATP6V1B1)	ENSP00000408361.2:p.Val230Leu
ENST00000495118.1:n.242+1G>C (ATP6V1B1)
ENST00000606025.5:c.476-18590C>G	ENSP00000475641.1:n.476-18590C>G
ENST00000646783.1:c.723+1G>C (VAX2)
XM_011532907.1:c.807+1G>C (ATP6V1B1)	XP_011531209.1:n.807+1G>C
XM_011532907.2:c.807+1G>C (ATP6V1B1)	XP_011531209.1:n.807+1G>C