Canonical Allele Identifier: CA394112163

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681503G>A , CM000678.2:g.681503G>A GRCh38
NC_000016.9:g.731503G>A , CM000678.1:g.731503G>A GRCh37
NC_000016.8:g.671504G>A NCBI36
NG_034141.1:g.6393G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.424G>A (STUB1) MANE Select ENSP00000219548.4:p.Ala142Thr
ENST00000219548.8:c.424G>A (STUB1) ENSP00000219548.4:p.Ala142Thr
ENST00000563505.5:n.520G>A (STUB1)
ENST00000564316.1:c.23G>A (STUB1)
ENST00000564370.5:c.208G>A (STUB1) ENSP00000456875.1:p.Ala70Thr
ENST00000565677.5:c.208G>A (STUB1) ENSP00000457228.1:p.Ala70Thr
ENST00000566181.2:n.193G>A (STUB1)
ENST00000566408.5:c.141G>A (STUB1)
ENST00000567173.5:c.367G>A (STUB1) ENSP00000456591.1:p.Ala123Thr
ENST00000569248.5:n.998G>A (STUB1)
ENST00000620831.4:c.-50+38200G>A (MSLN) ENSP00000482893.1:n.-50+38200G>A
NM_001293197.1:c.208G>A (STUB1) NP_001280126.1:p.Ala70Thr
NM_005861.3:c.424G>A (STUB1) NP_005852.2:p.Ala142Thr
NM_005861.4:c.424G>A (STUB1) MANE Select NP_005852.2:p.Ala142Thr
NM_001293197.2:c.208G>A (STUB1) NP_001280126.1:p.Ala70Thr