Canonical Allele Identifier: CA394112630

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681590G>C , CM000678.2:g.681590G>C GRCh38
NC_000016.9:g.731590G>C , CM000678.1:g.731590G>C GRCh37
NC_000016.8:g.671591G>C NCBI36
NG_034141.1:g.6480G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.511G>C (STUB1) MANE Select ENSP00000219548.4:p.Ala171Pro
ENST00000219548.8:c.511G>C (STUB1) ENSP00000219548.4:p.Ala171Pro
ENST00000563505.5:n.607G>C (STUB1)
ENST00000564316.1:c.110G>C (STUB1)
ENST00000564370.5:c.295G>C (STUB1) ENSP00000456875.1:p.Ala99Pro
ENST00000565677.5:c.295G>C (STUB1) ENSP00000457228.1:p.Ala99Pro
ENST00000566181.2:n.280G>C (STUB1)
ENST00000566408.5:c.228G>C (STUB1)
ENST00000567173.5:c.454G>C (STUB1) ENSP00000456591.1:p.Ala152Pro
ENST00000569248.5:n.1085G>C (STUB1)
ENST00000620831.4:c.-50+38287G>C (MSLN) ENSP00000482893.1:n.-50+38287G>C
NM_001293197.1:c.295G>C (STUB1) NP_001280126.1:p.Ala99Pro
NM_005861.3:c.511G>C (STUB1) NP_005852.2:p.Ala171Pro
NM_005861.4:c.511G>C (STUB1) MANE Select NP_005852.2:p.Ala171Pro
NM_001293197.2:c.295G>C (STUB1) NP_001280126.1:p.Ala99Pro