Canonical Allele Identifier: CA394112082

Linked Data

gnomAD v4: 16-681479-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681479G>A , CM000678.2:g.681479G>A GRCh38
NC_000016.9:g.731479G>A , CM000678.1:g.731479G>A GRCh37
NC_000016.8:g.671480G>A NCBI36
NG_034141.1:g.6369G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.400G>A (STUB1) MANE Select ENSP00000219548.4:p.Asp134Asn
ENST00000219548.8:c.400G>A (STUB1) ENSP00000219548.4:p.Asp134Asn
ENST00000563505.5:n.496G>A (STUB1)
ENST00000564370.5:c.184G>A (STUB1) ENSP00000456875.1:p.Asp62Asn
ENST00000565677.5:c.184G>A (STUB1) ENSP00000457228.1:p.Asp62Asn
ENST00000566181.2:n.169G>A (STUB1)
ENST00000566408.5:c.117G>A (STUB1)
ENST00000567173.5:c.343G>A (STUB1) ENSP00000456591.1:p.Asp115Asn
ENST00000569248.5:n.974G>A (STUB1)
ENST00000620831.4:c.-50+38176G>A (MSLN) ENSP00000482893.1:n.-50+38176G>A
NM_001293197.1:c.184G>A (STUB1) NP_001280126.1:p.Asp62Asn
NM_005861.3:c.400G>A (STUB1) NP_005852.2:p.Asp134Asn
NM_005861.4:c.400G>A (STUB1) MANE Select NP_005852.2:p.Asp134Asn
NM_001293197.2:c.184G>A (STUB1) NP_001280126.1:p.Asp62Asn