Canonical Allele Identifier: CA394112137

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681494C>A , CM000678.2:g.681494C>A GRCh38
NC_000016.9:g.731494C>A , CM000678.1:g.731494C>A GRCh37
NC_000016.8:g.671495C>A NCBI36
NG_034141.1:g.6384C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.415C>A (STUB1) MANE Select ENSP00000219548.4:p.Leu139Ile
ENST00000219548.8:c.415C>A (STUB1) ENSP00000219548.4:p.Leu139Ile
ENST00000563505.5:n.511C>A (STUB1)
ENST00000564316.1:c.14C>A (STUB1)
ENST00000564370.5:c.199C>A (STUB1) ENSP00000456875.1:p.Leu67Ile
ENST00000565677.5:c.199C>A (STUB1) ENSP00000457228.1:p.Leu67Ile
ENST00000566181.2:n.184C>A (STUB1)
ENST00000566408.5:c.132C>A (STUB1)
ENST00000567173.5:c.358C>A (STUB1) ENSP00000456591.1:p.Leu120Ile
ENST00000569248.5:n.989C>A (STUB1)
ENST00000620831.4:c.-50+38191C>A (MSLN) ENSP00000482893.1:n.-50+38191C>A
NM_001293197.1:c.199C>A (STUB1) NP_001280126.1:p.Leu67Ile
NM_005861.3:c.415C>A (STUB1) NP_005852.2:p.Leu139Ile
NM_005861.4:c.415C>A (STUB1) MANE Select NP_005852.2:p.Leu139Ile
NM_001293197.2:c.199C>A (STUB1) NP_001280126.1:p.Leu67Ile