Canonical Allele Identifier: CA7786598

Linked Data

dbSNP Id: rs772875923
gnomAD v2: 16-731528-T-C
gnomAD v3: 16-681528-T-C
gnomAD v4: 16-681528-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681528T>C , CM000678.2:g.681528T>C GRCh38
NC_000016.9:g.731528T>C , CM000678.1:g.731528T>C GRCh37
NC_000016.8:g.671529T>C NCBI36
NG_034141.1:g.6418T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.449T>C (STUB1) MANE Select ENSP00000219548.4:p.Ile150Thr
ENST00000219548.8:c.449T>C (STUB1) ENSP00000219548.4:p.Ile150Thr
ENST00000563505.5:n.545T>C (STUB1)
ENST00000564316.1:c.48T>C (STUB1)
ENST00000564370.5:c.233T>C (STUB1) ENSP00000456875.1:p.Ile78Thr
ENST00000565677.5:c.233T>C (STUB1) ENSP00000457228.1:p.Ile78Thr
ENST00000566181.2:n.218T>C (STUB1)
ENST00000566408.5:c.166T>C (STUB1)
ENST00000567173.5:c.392T>C (STUB1) ENSP00000456591.1:p.Ile131Thr
ENST00000569248.5:n.1023T>C (STUB1)
ENST00000620831.4:c.-50+38225T>C (MSLN) ENSP00000482893.1:n.-50+38225T>C
NM_001293197.1:c.233T>C (STUB1) NP_001280126.1:p.Ile78Thr
NM_005861.3:c.449T>C (STUB1) NP_005852.2:p.Ile150Thr
NM_005861.4:c.449T>C (STUB1) MANE Select NP_005852.2:p.Ile150Thr
NM_001293197.2:c.233T>C (STUB1) NP_001280126.1:p.Ile78Thr