Canonical Allele Identifier: CA1032032211

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1553419398
• gnomAD v3: 2-70958173-G-A
• gnomAD v4: 2-70958173-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958173G>A , CM000664.2:g.70958173G>A	GRCh38
NC_000002.11:g.71185303G>A , CM000664.1:g.71185303G>A	GRCh37
NC_000002.10:g.71038811G>A	NCBI36
NG_008016.1:g.27306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.273+29G>A (ATP6V1B1) MANE Select	ENSP00000234396.4:n.273+29G>A
ENST00000432098.2:n.439+29G>A (ATP6V1B1)
ENST00000432367.6:c.477+29G>A (VAX2)
ENST00000454446.6:c.273+29G>A (ATP6V1B1)	ENSP00000408361.2:n.273+29G>A
ENST00000646783.1:c.309+29G>A (VAX2)
ENST00000234396.8:c.273+29G>A (ATP6V1B1)	ENSP00000234396.4:n.273+29G>A
ENST00000412314.5:c.273+29G>A (ATP6V1B1)	ENSP00000388353.1:n.273+29G>A
ENST00000432098.1:c.-88+29G>A (ATP6V1B1)	ENSP00000387599.1:n.-88+29G>A
ENST00000432367.5:c.273+29G>A (ATP6V1B1)	ENSP00000405114.1:n.273+29G>A
ENST00000453130.1:c.143-9798C>T
ENST00000454446.5:c.324+29G>A (ATP6V1B1)	ENSP00000408361.1:n.324+29G>A
ENST00000463380.1:n.374+29G>A (ATP6V1B1)
ENST00000606025.5:c.476-15740C>T	ENSP00000475641.1:n.476-15740C>T
NM_001692.3:c.273+29G>A (ATP6V1B1)	NP_001683.2:n.273+29G>A
XM_011532907.1:c.393+29G>A (ATP6V1B1)	XP_011531209.1:n.393+29G>A
NM_001692.4:c.273+29G>A (ATP6V1B1) MANE Select	NP_001683.2:n.273+29G>A
XM_011532907.2:c.393+29G>A (ATP6V1B1)	XP_011531209.1:n.393+29G>A