Canonical Allele Identifier: CA347187880

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70964543G>C , CM000664.2:g.70964543G>C	GRCh38
NC_000002.11:g.71191673G>C , CM000664.1:g.71191673G>C	GRCh37
NC_000002.10:g.71045181G>C	NCBI36
NG_008016.1:g.33676G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.1248+1G>C (ATP6V1B1) MANE Select	NP_001683.2:n.1248+1G>C
ENST00000234396.10:c.1248+1G>C (ATP6V1B1) MANE Select	ENSP00000234396.4:n.1248+1G>C
NM_001692.3:c.1248+1G>C (ATP6V1B1)	NP_001683.2:n.1248+1G>C
ENST00000234396.8:c.1248+1G>C (ATP6V1B1)	ENSP00000234396.4:n.1248+1G>C
ENST00000412314.5:c.1197+1G>C (ATP6V1B1)	ENSP00000388353.1:n.1197+1G>C
ENST00000432367.5:c.*526+1G>C (ATP6V1B1)	ENSP00000405114.1:n.*526+1G>C
ENST00000432367.6:c.1301+1G>C (VAX2)
ENST00000433895.1:c.63+1G>C (ATP6V1B1)	ENSP00000407840.1:n.63+1G>C
ENST00000433895.2:c.180+1G>C (ATP6V1B1)	ENSP00000407840.2:n.180+1G>C
ENST00000453130.1:c.143-16168C>G
ENST00000606025.5:c.476-22110C>G	ENSP00000475641.1:n.476-22110C>G
XM_011532907.1:c.1368+1G>C (ATP6V1B1)	XP_011531209.1:n.1368+1G>C
XM_011532907.2:c.1368+1G>C (ATP6V1B1)	XP_011531209.1:n.1368+1G>C