Canonical Allele Identifier: CA2659504791

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958147-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958147G>T , CM000664.2:g.70958147G>T	GRCh38
NC_000002.11:g.71185277G>T , CM000664.1:g.71185277G>T	GRCh37
NC_000002.10:g.71038785G>T	NCBI36
NG_008016.1:g.27280G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.273+3G>T (ATP6V1B1) MANE Select	ENSP00000234396.4:n.273+3G>T
ENST00000432098.2:n.439+3G>T (ATP6V1B1)
ENST00000432367.6:c.477+3G>T (VAX2)
ENST00000454446.6:c.273+3G>T (ATP6V1B1)	ENSP00000408361.2:n.273+3G>T
ENST00000646783.1:c.309+3G>T (VAX2)
ENST00000234396.8:c.273+3G>T (ATP6V1B1)	ENSP00000234396.4:n.273+3G>T
ENST00000412314.5:c.273+3G>T (ATP6V1B1)	ENSP00000388353.1:n.273+3G>T
ENST00000432098.1:c.-88+3G>T (ATP6V1B1)	ENSP00000387599.1:n.-88+3G>T
ENST00000432367.5:c.273+3G>T (ATP6V1B1)	ENSP00000405114.1:n.273+3G>T
ENST00000453130.1:c.143-9772C>A
ENST00000454446.5:c.324+3G>T (ATP6V1B1)	ENSP00000408361.1:n.324+3G>T
ENST00000463380.1:n.374+3G>T (ATP6V1B1)
ENST00000606025.5:c.476-15714C>A	ENSP00000475641.1:n.476-15714C>A
NM_001692.3:c.273+3G>T (ATP6V1B1)	NP_001683.2:n.273+3G>T
XM_011532907.1:c.393+3G>T (ATP6V1B1)	XP_011531209.1:n.393+3G>T
NM_001692.4:c.273+3G>T (ATP6V1B1) MANE Select	NP_001683.2:n.273+3G>T
XM_011532907.2:c.393+3G>T (ATP6V1B1)	XP_011531209.1:n.393+3G>T