Canonical Allele Identifier: CA1032032157

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1680483962
• gnomAD v3: 2-70958034-C-G
• gnomAD v4: 2-70958034-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958034C>G , CM000664.2:g.70958034C>G	GRCh38
NC_000002.11:g.71185164C>G , CM000664.1:g.71185164C>G	GRCh37
NC_000002.10:g.71038672C>G	NCBI36
NG_008016.1:g.27167C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.175-12C>G (ATP6V1B1) MANE Select	ENSP00000234396.4:n.175-12C>G
ENST00000432098.2:n.341-12C>G (ATP6V1B1)
ENST00000432367.6:c.379-12C>G (VAX2)
ENST00000454446.6:c.175-12C>G (ATP6V1B1)	ENSP00000408361.2:n.175-12C>G
ENST00000646783.1:c.211-12C>G (VAX2)
ENST00000234396.8:c.175-12C>G (ATP6V1B1)	ENSP00000234396.4:n.175-12C>G
ENST00000412314.5:c.175-12C>G (ATP6V1B1)	ENSP00000388353.1:n.175-12C>G
ENST00000432098.1:c.-186-12C>G (ATP6V1B1)	ENSP00000387599.1:n.-186-12C>G
ENST00000432367.5:c.175-12C>G (ATP6V1B1)	ENSP00000405114.1:n.175-12C>G
ENST00000453130.1:c.143-9659G>C
ENST00000454446.5:c.226-12C>G (ATP6V1B1)	ENSP00000408361.1:n.226-12C>G
ENST00000463380.1:n.264C>G (ATP6V1B1)
ENST00000606025.5:c.476-15601G>C	ENSP00000475641.1:n.476-15601G>C
NM_001692.3:c.175-12C>G (ATP6V1B1)	NP_001683.2:n.175-12C>G
XM_011532907.1:c.295-12C>G (ATP6V1B1)	XP_011531209.1:n.295-12C>G
NM_001692.4:c.175-12C>G (ATP6V1B1) MANE Select	NP_001683.2:n.175-12C>G
XM_011532907.2:c.295-12C>G (ATP6V1B1)	XP_011531209.1:n.295-12C>G