Canonical Allele Identifier: CA7786592

Linked Data

dbSNP Id: rs780472903
gnomAD v2: 16-731491-G-C
gnomAD v4: 16-681491-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681491G>C , CM000678.2:g.681491G>C GRCh38
NC_000016.9:g.731491G>C , CM000678.1:g.731491G>C GRCh37
NC_000016.8:g.671492G>C NCBI36
NG_034141.1:g.6381G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.412G>C (STUB1) MANE Select ENSP00000219548.4:p.Ala138Pro
ENST00000219548.8:c.412G>C (STUB1) ENSP00000219548.4:p.Ala138Pro
ENST00000563505.5:n.508G>C (STUB1)
ENST00000564316.1:c.11G>C (STUB1)
ENST00000564370.5:c.196G>C (STUB1) ENSP00000456875.1:p.Ala66Pro
ENST00000565677.5:c.196G>C (STUB1) ENSP00000457228.1:p.Ala66Pro
ENST00000566181.2:n.181G>C (STUB1)
ENST00000566408.5:c.129G>C (STUB1)
ENST00000567173.5:c.355G>C (STUB1) ENSP00000456591.1:p.Ala119Pro
ENST00000569248.5:n.986G>C (STUB1)
ENST00000620831.4:c.-50+38188G>C (MSLN) ENSP00000482893.1:n.-50+38188G>C
NM_001293197.1:c.196G>C (STUB1) NP_001280126.1:p.Ala66Pro
NM_005861.3:c.412G>C (STUB1) NP_005852.2:p.Ala138Pro
NM_005861.4:c.412G>C (STUB1) MANE Select NP_005852.2:p.Ala138Pro
NM_001293197.2:c.196G>C (STUB1) NP_001280126.1:p.Ala66Pro