Canonical Allele Identifier: CA276565370

Linked Data

ClinVar Variation Id: 2585530
ClinVar RCV Id: RCV003338147
dbSNP Id: rs11642472
gnomAD v4: 16-681539-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681539C>T , CM000678.2:g.681539C>T GRCh38
NC_000016.9:g.731539C>T , CM000678.1:g.731539C>T GRCh37
NC_000016.8:g.671540C>T NCBI36
NG_034141.1:g.6429C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.460C>T (STUB1) MANE Select ENSP00000219548.4:p.Arg154Cys
ENST00000219548.8:c.460C>T (STUB1) ENSP00000219548.4:p.Arg154Cys
ENST00000563505.5:n.556C>T (STUB1)
ENST00000564316.1:c.59C>T (STUB1)
ENST00000564370.5:c.244C>T (STUB1) ENSP00000456875.1:p.Arg82Cys
ENST00000565677.5:c.244C>T (STUB1) ENSP00000457228.1:p.Arg82Cys
ENST00000566181.2:n.229C>T (STUB1)
ENST00000566408.5:c.177C>T (STUB1)
ENST00000567173.5:c.403C>T (STUB1) ENSP00000456591.1:p.Arg135Cys
ENST00000569248.5:n.1034C>T (STUB1)
ENST00000620831.4:c.-50+38236C>T (MSLN) ENSP00000482893.1:n.-50+38236C>T
NM_001293197.1:c.244C>T (STUB1) NP_001280126.1:p.Arg82Cys
NM_005861.3:c.460C>T (STUB1) NP_005852.2:p.Arg154Cys
NM_005861.4:c.460C>T (STUB1) MANE Select NP_005852.2:p.Arg154Cys
NM_001293197.2:c.244C>T (STUB1) NP_001280126.1:p.Arg82Cys