Canonical Allele Identifier: CA394112003

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681465T>A , CM000678.2:g.681465T>A GRCh38
NC_000016.9:g.731465T>A , CM000678.1:g.731465T>A GRCh37
NC_000016.8:g.671466T>A NCBI36
NG_034141.1:g.6355T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.386T>A (STUB1) MANE Select ENSP00000219548.4:p.Leu129Gln
ENST00000219548.8:c.386T>A (STUB1) ENSP00000219548.4:p.Leu129Gln
ENST00000563505.5:n.482T>A (STUB1)
ENST00000564370.5:c.170T>A (STUB1) ENSP00000456875.1:p.Leu57Gln
ENST00000565677.5:c.170T>A (STUB1) ENSP00000457228.1:p.Leu57Gln
ENST00000566181.2:n.155T>A (STUB1)
ENST00000566408.5:c.103T>A (STUB1)
ENST00000567173.5:c.329T>A (STUB1) ENSP00000456591.1:p.Leu110Gln
ENST00000569248.5:n.960T>A (STUB1)
ENST00000620831.4:c.-50+38162T>A (MSLN) ENSP00000482893.1:n.-50+38162T>A
NM_001293197.1:c.170T>A (STUB1) NP_001280126.1:p.Leu57Gln
NM_005861.3:c.386T>A (STUB1) NP_005852.2:p.Leu129Gln
NM_005861.4:c.386T>A (STUB1) MANE Select NP_005852.2:p.Leu129Gln
NM_001293197.2:c.170T>A (STUB1) NP_001280126.1:p.Leu57Gln