Canonical Allele Identifier: CA2659504843

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958286-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958286C>T , CM000664.2:g.70958286C>T	GRCh38
NC_000002.11:g.71185416C>T , CM000664.1:g.71185416C>T	GRCh37
NC_000002.10:g.71038924C>T	NCBI36
NG_008016.1:g.27419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.274-47C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:n.274-47C>T
ENST00000432098.2:n.440-47C>T (ATP6V1B1)
ENST00000432367.6:c.478-47C>T (VAX2)
ENST00000454446.6:c.274-47C>T (ATP6V1B1)	ENSP00000408361.2:n.274-47C>T
ENST00000646783.1:c.310-47C>T (VAX2)
ENST00000234396.8:c.274-47C>T (ATP6V1B1)	ENSP00000234396.4:n.274-47C>T
ENST00000412314.5:c.274-47C>T (ATP6V1B1)	ENSP00000388353.1:n.274-47C>T
ENST00000432098.1:c.-87-47C>T (ATP6V1B1)	ENSP00000387599.1:n.-87-47C>T
ENST00000432367.5:c.274-47C>T (ATP6V1B1)	ENSP00000405114.1:n.274-47C>T
ENST00000453130.1:c.143-9911G>A
ENST00000454446.5:c.325-47C>T (ATP6V1B1)	ENSP00000408361.1:n.325-47C>T
ENST00000463380.1:n.375-47C>T (ATP6V1B1)
ENST00000606025.5:c.476-15853G>A	ENSP00000475641.1:n.476-15853G>A
NM_001692.3:c.274-47C>T (ATP6V1B1)	NP_001683.2:n.274-47C>T
XM_011532907.1:c.394-47C>T (ATP6V1B1)	XP_011531209.1:n.394-47C>T
NM_001692.4:c.274-47C>T (ATP6V1B1) MANE Select	NP_001683.2:n.274-47C>T
XM_011532907.2:c.394-47C>T (ATP6V1B1)	XP_011531209.1:n.394-47C>T