Canonical Allele Identifier: CA2659504829
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Linked Data

gnomAD v4: 2-70958257-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70958257A>C , CM000664.2:g.70958257A>C GRCh38
NC_000002.11:g.71185387A>C , CM000664.1:g.71185387A>C GRCh37
NC_000002.10:g.71038895A>C NCBI36
NG_008016.1:g.27390A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000234396.10:c.274-76A>C (ATP6V1B1) MANE Select ENSP00000234396.4:n.274-76A>C
ENST00000432098.2:n.440-76A>C (ATP6V1B1)
ENST00000432367.6:c.478-76A>C (VAX2)
ENST00000454446.6:c.274-76A>C (ATP6V1B1) ENSP00000408361.2:n.274-76A>C
ENST00000646783.1:c.310-76A>C (VAX2)
ENST00000234396.8:c.274-76A>C (ATP6V1B1) ENSP00000234396.4:n.274-76A>C
ENST00000412314.5:c.274-76A>C (ATP6V1B1) ENSP00000388353.1:n.274-76A>C
ENST00000432098.1:c.-87-76A>C (ATP6V1B1) ENSP00000387599.1:n.-87-76A>C
ENST00000432367.5:c.274-76A>C (ATP6V1B1) ENSP00000405114.1:n.274-76A>C
ENST00000453130.1:c.143-9882T>G
ENST00000454446.5:c.325-76A>C (ATP6V1B1) ENSP00000408361.1:n.325-76A>C
ENST00000463380.1:n.375-76A>C (ATP6V1B1)
ENST00000606025.5:c.476-15824T>G ENSP00000475641.1:n.476-15824T>G
NM_001692.3:c.274-76A>C (ATP6V1B1) NP_001683.2:n.274-76A>C
XM_011532907.1:c.394-76A>C (ATP6V1B1) XP_011531209.1:n.394-76A>C
NM_001692.4:c.274-76A>C (ATP6V1B1) MANE Select NP_001683.2:n.274-76A>C
XM_011532907.2:c.394-76A>C (ATP6V1B1) XP_011531209.1:n.394-76A>C