Canonical Allele Identifier: CA493008513

Linked Data

dbSNP Id: rs1410313056
gnomAD v3: 16-681565-C-T
gnomAD v4: 16-681565-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681565C>T , CM000678.2:g.681565C>T GRCh38
NC_000016.9:g.731565C>T , CM000678.1:g.731565C>T GRCh37
NC_000016.8:g.671566C>T NCBI36
NG_034141.1:g.6455C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.486C>T (STUB1) MANE Select ENSP00000219548.4:p.His162=
ENST00000219548.8:c.486C>T (STUB1) ENSP00000219548.4:p.His162=
ENST00000563505.5:n.582C>T (STUB1)
ENST00000564316.1:c.85C>T (STUB1)
ENST00000564370.5:c.270C>T (STUB1) ENSP00000456875.1:p.His90=
ENST00000565677.5:c.270C>T (STUB1) ENSP00000457228.1:p.His90=
ENST00000566181.2:n.255C>T (STUB1)
ENST00000566408.5:c.203C>T (STUB1)
ENST00000567173.5:c.429C>T (STUB1) ENSP00000456591.1:p.His143=
ENST00000569248.5:n.1060C>T (STUB1)
ENST00000620831.4:c.-50+38262C>T (MSLN) ENSP00000482893.1:n.-50+38262C>T
NM_001293197.1:c.270C>T (STUB1) NP_001280126.1:p.His90=
NM_005861.3:c.486C>T (STUB1) NP_005852.2:p.His162=
NM_005861.4:c.486C>T (STUB1) MANE Select NP_005852.2:p.His162=
NM_001293197.2:c.270C>T (STUB1) NP_001280126.1:p.His90=