Canonical Allele Identifier: CA7786597

Linked Data

dbSNP Id: rs771799916
gnomAD v2: 16-731525-G-T
gnomAD v3: 16-681525-G-T
gnomAD v4: 16-681525-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681525G>T , CM000678.2:g.681525G>T GRCh38
NC_000016.9:g.731525G>T , CM000678.1:g.731525G>T GRCh37
NC_000016.8:g.671526G>T NCBI36
NG_034141.1:g.6415G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.446G>T (STUB1) MANE Select ENSP00000219548.4:p.Ser149Ile
ENST00000219548.8:c.446G>T (STUB1) ENSP00000219548.4:p.Ser149Ile
ENST00000563505.5:n.542G>T (STUB1)
ENST00000564316.1:c.45G>T (STUB1)
ENST00000564370.5:c.230G>T (STUB1) ENSP00000456875.1:p.Ser77Ile
ENST00000565677.5:c.230G>T (STUB1) ENSP00000457228.1:p.Ser77Ile
ENST00000566181.2:n.215G>T (STUB1)
ENST00000566408.5:c.163G>T (STUB1)
ENST00000567173.5:c.389G>T (STUB1) ENSP00000456591.1:p.Ser130Ile
ENST00000569248.5:n.1020G>T (STUB1)
ENST00000620831.4:c.-50+38222G>T (MSLN) ENSP00000482893.1:n.-50+38222G>T
NM_001293197.1:c.230G>T (STUB1) NP_001280126.1:p.Ser77Ile
NM_005861.3:c.446G>T (STUB1) NP_005852.2:p.Ser149Ile
NM_005861.4:c.446G>T (STUB1) MANE Select NP_005852.2:p.Ser149Ile
NM_001293197.2:c.230G>T (STUB1) NP_001280126.1:p.Ser77Ile