Canonical Allele Identifier: CA394112016

Linked Data

gnomAD v4: 16-681468-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681468A>C , CM000678.2:g.681468A>C GRCh38
NC_000016.9:g.731468A>C , CM000678.1:g.731468A>C GRCh37
NC_000016.8:g.671469A>C NCBI36
NG_034141.1:g.6358A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.389A>C (STUB1) MANE Select ENSP00000219548.4:p.Asn130Thr
ENST00000219548.8:c.389A>C (STUB1) ENSP00000219548.4:p.Asn130Thr
ENST00000563505.5:n.485A>C (STUB1)
ENST00000564370.5:c.173A>C (STUB1) ENSP00000456875.1:p.Asn58Thr
ENST00000565677.5:c.173A>C (STUB1) ENSP00000457228.1:p.Asn58Thr
ENST00000566181.2:n.158A>C (STUB1)
ENST00000566408.5:c.106A>C (STUB1)
ENST00000567173.5:c.332A>C (STUB1) ENSP00000456591.1:p.Asn111Thr
ENST00000569248.5:n.963A>C (STUB1)
ENST00000620831.4:c.-50+38165A>C (MSLN) ENSP00000482893.1:n.-50+38165A>C
NM_001293197.1:c.173A>C (STUB1) NP_001280126.1:p.Asn58Thr
NM_005861.3:c.389A>C (STUB1) NP_005852.2:p.Asn130Thr
NM_005861.4:c.389A>C (STUB1) MANE Select NP_005852.2:p.Asn130Thr
NM_001293197.2:c.173A>C (STUB1) NP_001280126.1:p.Asn58Thr