Canonical Allele Identifier: CA394111957

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681456A>C , CM000678.2:g.681456A>C GRCh38
NC_000016.9:g.731456A>C , CM000678.1:g.731456A>C GRCh37
NC_000016.8:g.671457A>C NCBI36
NG_034141.1:g.6346A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.377A>C (STUB1) MANE Select ENSP00000219548.4:p.Glu126Ala
ENST00000219548.8:c.377A>C (STUB1) ENSP00000219548.4:p.Glu126Ala
ENST00000563505.5:n.473A>C (STUB1)
ENST00000564370.5:c.161A>C (STUB1) ENSP00000456875.1:p.Glu54Ala
ENST00000565677.5:c.161A>C (STUB1) ENSP00000457228.1:p.Glu54Ala
ENST00000566181.2:n.146A>C (STUB1)
ENST00000566408.5:c.94A>C (STUB1)
ENST00000567173.5:c.320A>C (STUB1) ENSP00000456591.1:p.Glu107Ala
ENST00000569248.5:n.951A>C (STUB1)
ENST00000620831.4:c.-50+38153A>C (MSLN) ENSP00000482893.1:n.-50+38153A>C
NM_001293197.1:c.161A>C (STUB1) NP_001280126.1:p.Glu54Ala
NM_005861.3:c.377A>C (STUB1) NP_005852.2:p.Glu126Ala
NM_005861.4:c.377A>C (STUB1) MANE Select NP_005852.2:p.Glu126Ala
NM_001293197.2:c.161A>C (STUB1) NP_001280126.1:p.Glu54Ala