Canonical Allele Identifier: CA1701267

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70963664T>C , CM000664.2:g.70963664T>C	GRCh38
NC_000002.11:g.71190794T>C , CM000664.1:g.71190794T>C	GRCh37
NC_000002.10:g.71044302T>C	NCBI36
NG_008016.1:g.32797T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.1143+10T>C (ATP6V1B1) MANE Select	NP_001683.2:n.1143+10T>C
ENST00000234396.10:c.1143+10T>C (ATP6V1B1) MANE Select	ENSP00000234396.4:n.1143+10T>C
NM_001692.3:c.1143+10T>C (ATP6V1B1)	NP_001683.2:n.1143+10T>C
ENST00000234396.8:c.1143+10T>C (ATP6V1B1)	ENSP00000234396.4:n.1143+10T>C
ENST00000412314.5:c.1092+10T>C (ATP6V1B1)	ENSP00000388353.1:n.1092+10T>C
ENST00000432367.5:c.*421+10T>C (ATP6V1B1)	ENSP00000405114.1:n.*421+10T>C
ENST00000432367.6:c.1196+10T>C (VAX2)
ENST00000433895.1:c.-85+10T>C (ATP6V1B1)	ENSP00000407840.1:n.-85+10T>C
ENST00000433895.2:c.33+10T>C (ATP6V1B1)	ENSP00000407840.2:n.33+10T>C
ENST00000453130.1:c.143-15289A>G
ENST00000606025.5:c.476-21231A>G	ENSP00000475641.1:n.476-21231A>G
ENST00000646783.1:c.1179+10T>C (VAX2)
XM_011532907.1:c.1263+10T>C (ATP6V1B1)	XP_011531209.1:n.1263+10T>C
XM_011532907.2:c.1263+10T>C (ATP6V1B1)	XP_011531209.1:n.1263+10T>C