Canonical Allele Identifier: CA347176795

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70936021C>T , CM000664.2:g.70936021C>T	GRCh38
NC_000002.11:g.71163151C>T , CM000664.1:g.71163151C>T	GRCh37
NC_000002.10:g.71016659C>T	NCBI36
NG_008016.1:g.5154C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.67C>T (ATP6V1B1) MANE Select	NP_001683.2:p.Arg23Ter
ENST00000234396.10:c.67C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Arg23Ter
NM_001692.3:c.67C>T (ATP6V1B1)	NP_001683.2:p.Arg23Ter
ENST00000234396.8:c.67C>T (ATP6V1B1)	ENSP00000234396.4:p.Arg23Ter
ENST00000412314.5:c.67C>T (ATP6V1B1)	ENSP00000388353.1:p.Arg23Ter
ENST00000432367.5:c.67C>T (ATP6V1B1)	ENSP00000405114.1:p.Arg23Ter
ENST00000432367.6:c.323-7637C>T (VAX2)
ENST00000454446.6:c.67C>T (ATP6V1B1)	ENSP00000408361.2:p.Arg23Ter
ENST00000646783.1:c.80-3397C>T (VAX2)