Canonical Allele Identifier: CA1700992
Community Standard Title: NM_001692.4(ATP6V1B1):c.318C>T (p.Cys106=)
Gene: ATP6V1B1 HGNC NCBI
VAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70958377C>T , CM000664.2:g.70958377C>T GRCh38
NC_000002.11:g.71185507C>T , CM000664.1:g.71185507C>T GRCh37
NC_000002.10:g.71039015C>T NCBI36
NG_008016.1:g.27510C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001692.4:c.318C>T (ATP6V1B1) MANE Select NP_001683.2:p.Cys106=
ENST00000234396.10:c.318C>T (ATP6V1B1) MANE Select ENSP00000234396.4:p.Cys106=
NM_001692.3:c.318C>T (ATP6V1B1) NP_001683.2:p.Cys106=
ENST00000234396.8:c.318C>T (ATP6V1B1) ENSP00000234396.4:p.Cys106=
ENST00000412314.5:c.318C>T (ATP6V1B1) ENSP00000388353.1:p.Cys106=
ENST00000432098.1:c.-43C>T (ATP6V1B1) ENSP00000387599.1:n.-43C>T
ENST00000432098.2:n.484C>T (ATP6V1B1)
ENST00000432367.5:c.318C>T (ATP6V1B1) ENSP00000405114.1:p.Cys106=
ENST00000432367.6:c.522C>T (VAX2)
ENST00000453130.1:c.143-10002G>A
ENST00000454446.5:c.369C>T (ATP6V1B1) ENSP00000408361.1:p.Cys123=
ENST00000454446.6:c.318C>T (ATP6V1B1) ENSP00000408361.2:p.Cys106=
ENST00000463380.1:n.419C>T (ATP6V1B1)
ENST00000606025.5:c.476-15944G>A ENSP00000475641.1:n.476-15944G>A
ENST00000646783.1:c.354C>T (VAX2)
XM_011532907.1:c.438C>T (ATP6V1B1) XP_011531209.1:p.Cys146=
XM_011532907.2:c.438C>T (ATP6V1B1) XP_011531209.1:p.Cys146=