Canonical Allele Identifier: CA394112149

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681498G>A , CM000678.2:g.681498G>A GRCh38
NC_000016.9:g.731498G>A , CM000678.1:g.731498G>A GRCh37
NC_000016.8:g.671499G>A NCBI36
NG_034141.1:g.6388G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.419G>A (STUB1) MANE Select ENSP00000219548.4:p.Arg140Gln
ENST00000219548.8:c.419G>A (STUB1) ENSP00000219548.4:p.Arg140Gln
ENST00000563505.5:n.515G>A (STUB1)
ENST00000564316.1:c.18G>A (STUB1)
ENST00000564370.5:c.203G>A (STUB1) ENSP00000456875.1:p.Arg68Gln
ENST00000565677.5:c.203G>A (STUB1) ENSP00000457228.1:p.Arg68Gln
ENST00000566181.2:n.188G>A (STUB1)
ENST00000566408.5:c.136G>A (STUB1)
ENST00000567173.5:c.362G>A (STUB1) ENSP00000456591.1:p.Arg121Gln
ENST00000569248.5:n.993G>A (STUB1)
ENST00000620831.4:c.-50+38195G>A (MSLN) ENSP00000482893.1:n.-50+38195G>A
NM_001293197.1:c.203G>A (STUB1) NP_001280126.1:p.Arg68Gln
NM_005861.3:c.419G>A (STUB1) NP_005852.2:p.Arg140Gln
NM_005861.4:c.419G>A (STUB1) MANE Select NP_005852.2:p.Arg140Gln
NM_001293197.2:c.203G>A (STUB1) NP_001280126.1:p.Arg68Gln