Canonical Allele Identifier: CA394112368

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681535G>T , CM000678.2:g.681535G>T GRCh38
NC_000016.9:g.731535G>T , CM000678.1:g.731535G>T GRCh37
NC_000016.8:g.671536G>T NCBI36
NG_034141.1:g.6425G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.456G>T (STUB1) MANE Select ENSP00000219548.4:p.Glu152Asp
ENST00000219548.8:c.456G>T (STUB1) ENSP00000219548.4:p.Glu152Asp
ENST00000563505.5:n.552G>T (STUB1)
ENST00000564316.1:c.55G>T (STUB1)
ENST00000564370.5:c.240G>T (STUB1) ENSP00000456875.1:p.Glu80Asp
ENST00000565677.5:c.240G>T (STUB1) ENSP00000457228.1:p.Glu80Asp
ENST00000566181.2:n.225G>T (STUB1)
ENST00000566408.5:c.173G>T (STUB1)
ENST00000567173.5:c.399G>T (STUB1) ENSP00000456591.1:p.Glu133Asp
ENST00000569248.5:n.1030G>T (STUB1)
ENST00000620831.4:c.-50+38232G>T (MSLN) ENSP00000482893.1:n.-50+38232G>T
NM_001293197.1:c.240G>T (STUB1) NP_001280126.1:p.Glu80Asp
NM_005861.3:c.456G>T (STUB1) NP_005852.2:p.Glu152Asp
NM_005861.4:c.456G>T (STUB1) MANE Select NP_005852.2:p.Glu152Asp
NM_001293197.2:c.240G>T (STUB1) NP_001280126.1:p.Glu80Asp