Canonical Allele Identifier: CA394111979

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681460G>C , CM000678.2:g.681460G>C GRCh38
NC_000016.9:g.731460G>C , CM000678.1:g.731460G>C GRCh37
NC_000016.8:g.671461G>C NCBI36
NG_034141.1:g.6350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.381G>C (STUB1) MANE Select ENSP00000219548.4:p.Gln127His
ENST00000219548.8:c.381G>C (STUB1) ENSP00000219548.4:p.Gln127His
ENST00000563505.5:n.477G>C (STUB1)
ENST00000564370.5:c.165G>C (STUB1) ENSP00000456875.1:p.Gln55His
ENST00000565677.5:c.165G>C (STUB1) ENSP00000457228.1:p.Gln55His
ENST00000566181.2:n.150G>C (STUB1)
ENST00000566408.5:c.98G>C (STUB1)
ENST00000567173.5:c.324G>C (STUB1) ENSP00000456591.1:p.Gln108His
ENST00000569248.5:n.955G>C (STUB1)
ENST00000620831.4:c.-50+38157G>C (MSLN) ENSP00000482893.1:n.-50+38157G>C
NM_001293197.1:c.165G>C (STUB1) NP_001280126.1:p.Gln55His
NM_005861.3:c.381G>C (STUB1) NP_005852.2:p.Gln127His
NM_005861.4:c.381G>C (STUB1) MANE Select NP_005852.2:p.Gln127His
NM_001293197.2:c.165G>C (STUB1) NP_001280126.1:p.Gln55His