Canonical Allele Identifier: CA133784

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70935956T>C , CM000664.2:g.70935956T>C	GRCh38
NC_000002.11:g.71163086T>C , CM000664.1:g.71163086T>C	GRCh37
NC_000002.10:g.71016594T>C	NCBI36
NG_008016.1:g.5089T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.2T>C (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Met1Thr
ENST00000432367.6:c.323-7702T>C (VAX2)
ENST00000454446.6:c.2T>C (ATP6V1B1)	ENSP00000408361.2:p.Met1Thr
ENST00000646783.1:c.80-3462T>C (VAX2)
ENST00000234396.8:c.2T>C (ATP6V1B1)	ENSP00000234396.4:p.Met1Thr
ENST00000412314.5:c.2T>C (ATP6V1B1)	ENSP00000388353.1:p.Met1Thr
ENST00000432367.5:c.2T>C (ATP6V1B1)	ENSP00000405114.1:p.Met1Thr
NM_001692.3:c.2T>C (ATP6V1B1)	NP_001683.2:p.Met1Thr
NM_001692.4:c.2T>C (ATP6V1B1) MANE Select	NP_001683.2:p.Met1Thr