Canonical Allele Identifier: CA394112086

Linked Data

gnomAD v4: 16-681480-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681480A>C , CM000678.2:g.681480A>C GRCh38
NC_000016.9:g.731480A>C , CM000678.1:g.731480A>C GRCh37
NC_000016.8:g.671481A>C NCBI36
NG_034141.1:g.6370A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.401A>C (STUB1) MANE Select ENSP00000219548.4:p.Asp134Ala
ENST00000219548.8:c.401A>C (STUB1) ENSP00000219548.4:p.Asp134Ala
ENST00000563505.5:n.497A>C (STUB1)
ENST00000564370.5:c.185A>C (STUB1) ENSP00000456875.1:p.Asp62Ala
ENST00000565677.5:c.185A>C (STUB1) ENSP00000457228.1:p.Asp62Ala
ENST00000566181.2:n.170A>C (STUB1)
ENST00000566408.5:c.118A>C (STUB1)
ENST00000567173.5:c.344A>C (STUB1) ENSP00000456591.1:p.Asp115Ala
ENST00000569248.5:n.975A>C (STUB1)
ENST00000620831.4:c.-50+38177A>C (MSLN) ENSP00000482893.1:n.-50+38177A>C
NM_001293197.1:c.185A>C (STUB1) NP_001280126.1:p.Asp62Ala
NM_005861.3:c.401A>C (STUB1) NP_005852.2:p.Asp134Ala
NM_005861.4:c.401A>C (STUB1) MANE Select NP_005852.2:p.Asp134Ala
NM_001293197.2:c.185A>C (STUB1) NP_001280126.1:p.Asp62Ala