Canonical Allele Identifier: CA121983

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70936045C>T , CM000664.2:g.70936045C>T	GRCh38
NC_000002.11:g.71163175C>T , CM000664.1:g.71163175C>T	GRCh37
NC_000002.10:g.71016683C>T	NCBI36
NG_008016.1:g.5178C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.91C>T (ATP6V1B1) MANE Select	NP_001683.2:p.Arg31Ter
ENST00000234396.10:c.91C>T (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Arg31Ter
NM_001692.3:c.91C>T (ATP6V1B1)	NP_001683.2:p.Arg31Ter
ENST00000234396.8:c.91C>T (ATP6V1B1)	ENSP00000234396.4:p.Arg31Ter
ENST00000412314.5:c.91C>T (ATP6V1B1)	ENSP00000388353.1:p.Arg31Ter
ENST00000432367.5:c.91C>T (ATP6V1B1)	ENSP00000405114.1:p.Arg31Ter
ENST00000432367.6:c.323-7613C>T (VAX2)
ENST00000454446.6:c.91C>T (ATP6V1B1)	ENSP00000408361.2:p.Arg31Ter
ENST00000646783.1:c.80-3373C>T (VAX2)