Canonical Allele Identifier: CA2659504797

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958168-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958168G>C , CM000664.2:g.70958168G>C	GRCh38
NC_000002.11:g.71185298G>C , CM000664.1:g.71185298G>C	GRCh37
NC_000002.10:g.71038806G>C	NCBI36
NG_008016.1:g.27301G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.273+24G>C (ATP6V1B1) MANE Select	ENSP00000234396.4:n.273+24G>C
ENST00000432098.2:n.439+24G>C (ATP6V1B1)
ENST00000432367.6:c.477+24G>C (VAX2)
ENST00000454446.6:c.273+24G>C (ATP6V1B1)	ENSP00000408361.2:n.273+24G>C
ENST00000646783.1:c.309+24G>C (VAX2)
ENST00000234396.8:c.273+24G>C (ATP6V1B1)	ENSP00000234396.4:n.273+24G>C
ENST00000412314.5:c.273+24G>C (ATP6V1B1)	ENSP00000388353.1:n.273+24G>C
ENST00000432098.1:c.-88+24G>C (ATP6V1B1)	ENSP00000387599.1:n.-88+24G>C
ENST00000432367.5:c.273+24G>C (ATP6V1B1)	ENSP00000405114.1:n.273+24G>C
ENST00000453130.1:c.143-9793C>G
ENST00000454446.5:c.324+24G>C (ATP6V1B1)	ENSP00000408361.1:n.324+24G>C
ENST00000463380.1:n.374+24G>C (ATP6V1B1)
ENST00000606025.5:c.476-15735C>G	ENSP00000475641.1:n.476-15735C>G
NM_001692.3:c.273+24G>C (ATP6V1B1)	NP_001683.2:n.273+24G>C
XM_011532907.1:c.393+24G>C (ATP6V1B1)	XP_011531209.1:n.393+24G>C
NM_001692.4:c.273+24G>C (ATP6V1B1) MANE Select	NP_001683.2:n.273+24G>C
XM_011532907.2:c.393+24G>C (ATP6V1B1)	XP_011531209.1:n.393+24G>C