Canonical Allele Identifier: CA3007256413

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70961515T>G , CM000664.2:g.70961515T>G	GRCh38
NC_000002.11:g.71188645T>G , CM000664.1:g.71188645T>G	GRCh37
NC_000002.10:g.71042153T>G	NCBI36
NG_008016.1:g.30648T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.688-81T>G (ATP6V1B1) MANE Select	NP_001683.2:n.688-81T>G
ENST00000234396.10:c.688-81T>G (ATP6V1B1) MANE Select	ENSP00000234396.4:n.688-81T>G
NM_001692.3:c.688-81T>G (ATP6V1B1)	NP_001683.2:n.688-81T>G
ENST00000234396.8:c.688-81T>G (ATP6V1B1)	ENSP00000234396.4:n.688-81T>G
ENST00000412314.5:c.688-81T>G (ATP6V1B1)	ENSP00000388353.1:n.688-81T>G
ENST00000432367.5:c.713-81T>G (ATP6V1B1)	ENSP00000405114.1:n.713-81T>G
ENST00000432367.6:c.892-81T>G (VAX2)
ENST00000453130.1:c.143-13140A>C
ENST00000454446.6:c.709-81T>G (ATP6V1B1)	ENSP00000408361.2:n.709-81T>G
ENST00000495118.1:n.243-81T>G (ATP6V1B1)
ENST00000606025.5:c.476-19082A>C	ENSP00000475641.1:n.476-19082A>C
ENST00000646783.1:c.724-81T>G (VAX2)
XM_011532907.1:c.808-81T>G (ATP6V1B1)	XP_011531209.1:n.808-81T>G
XM_011532907.2:c.808-81T>G (ATP6V1B1)	XP_011531209.1:n.808-81T>G