Canonical Allele Identifier: CA2659504777

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958016-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958016T>G , CM000664.2:g.70958016T>G	GRCh38
NC_000002.11:g.71185146T>G , CM000664.1:g.71185146T>G	GRCh37
NC_000002.10:g.71038654T>G	NCBI36
NG_008016.1:g.27149T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.175-30T>G (ATP6V1B1) MANE Select	ENSP00000234396.4:n.175-30T>G
ENST00000432098.2:n.341-30T>G (ATP6V1B1)
ENST00000432367.6:c.379-30T>G (VAX2)
ENST00000454446.6:c.175-30T>G (ATP6V1B1)	ENSP00000408361.2:n.175-30T>G
ENST00000646783.1:c.211-30T>G (VAX2)
ENST00000234396.8:c.175-30T>G (ATP6V1B1)	ENSP00000234396.4:n.175-30T>G
ENST00000412314.5:c.175-30T>G (ATP6V1B1)	ENSP00000388353.1:n.175-30T>G
ENST00000432098.1:c.-186-30T>G (ATP6V1B1)	ENSP00000387599.1:n.-186-30T>G
ENST00000432367.5:c.175-30T>G (ATP6V1B1)	ENSP00000405114.1:n.175-30T>G
ENST00000453130.1:c.143-9641A>C
ENST00000454446.5:c.226-30T>G (ATP6V1B1)	ENSP00000408361.1:n.226-30T>G
ENST00000463380.1:n.246T>G (ATP6V1B1)
ENST00000606025.5:c.476-15583A>C	ENSP00000475641.1:n.476-15583A>C
NM_001692.3:c.175-30T>G (ATP6V1B1)	NP_001683.2:n.175-30T>G
XM_011532907.1:c.295-30T>G (ATP6V1B1)	XP_011531209.1:n.295-30T>G
NM_001692.4:c.175-30T>G (ATP6V1B1) MANE Select	NP_001683.2:n.175-30T>G
XM_011532907.2:c.295-30T>G (ATP6V1B1)	XP_011531209.1:n.295-30T>G