Canonical Allele Identifier: CA394112110

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681484C>G , CM000678.2:g.681484C>G GRCh38
NC_000016.9:g.731484C>G , CM000678.1:g.731484C>G GRCh37
NC_000016.8:g.671485C>G NCBI36
NG_034141.1:g.6374C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.405C>G (STUB1) MANE Select ENSP00000219548.4:p.Ile135Met
ENST00000219548.8:c.405C>G (STUB1) ENSP00000219548.4:p.Ile135Met
ENST00000563505.5:n.501C>G (STUB1)
ENST00000564316.1:c.4C>G (STUB1)
ENST00000564370.5:c.189C>G (STUB1) ENSP00000456875.1:p.Ile63Met
ENST00000565677.5:c.189C>G (STUB1) ENSP00000457228.1:p.Ile63Met
ENST00000566181.2:n.174C>G (STUB1)
ENST00000566408.5:c.122C>G (STUB1)
ENST00000567173.5:c.348C>G (STUB1) ENSP00000456591.1:p.Ile116Met
ENST00000569248.5:n.979C>G (STUB1)
ENST00000620831.4:c.-50+38181C>G (MSLN) ENSP00000482893.1:n.-50+38181C>G
NM_001293197.1:c.189C>G (STUB1) NP_001280126.1:p.Ile63Met
NM_005861.3:c.405C>G (STUB1) NP_005852.2:p.Ile135Met
NM_005861.4:c.405C>G (STUB1) MANE Select NP_005852.2:p.Ile135Met
NM_001293197.2:c.189C>G (STUB1) NP_001280126.1:p.Ile63Met