Canonical Allele Identifier: CA175274

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70961589T>C , CM000664.2:g.70961589T>C	GRCh38
NC_000002.11:g.71188719T>C , CM000664.1:g.71188719T>C	GRCh37
NC_000002.10:g.71042227T>C	NCBI36
NG_008016.1:g.30722T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.688-7T>C (ATP6V1B1) MANE Select	NP_001683.2:n.688-7T>C
ENST00000234396.10:c.688-7T>C (ATP6V1B1) MANE Select	ENSP00000234396.4:n.688-7T>C
NM_001692.3:c.688-7T>C (ATP6V1B1)	NP_001683.2:n.688-7T>C
ENST00000234396.8:c.688-7T>C (ATP6V1B1)	ENSP00000234396.4:n.688-7T>C
ENST00000412314.5:c.688-7T>C (ATP6V1B1)	ENSP00000388353.1:n.688-7T>C
ENST00000432367.5:c.713-7T>C (ATP6V1B1)	ENSP00000405114.1:n.713-7T>C
ENST00000432367.6:c.892-7T>C (VAX2)
ENST00000453130.1:c.143-13214A>G
ENST00000454446.6:c.709-7T>C (ATP6V1B1)	ENSP00000408361.2:n.709-7T>C
ENST00000495118.1:n.243-7T>C (ATP6V1B1)
ENST00000606025.5:c.476-19156A>G	ENSP00000475641.1:n.476-19156A>G
ENST00000646783.1:c.724-7T>C (VAX2)
XM_011532907.1:c.808-7T>C (ATP6V1B1)	XP_011531209.1:n.808-7T>C
XM_011532907.2:c.808-7T>C (ATP6V1B1)	XP_011531209.1:n.808-7T>C