Canonical Allele Identifier: CA394111461

Linked Data

gnomAD v4: 16-681300-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681300G>C , CM000678.2:g.681300G>C GRCh38
NC_000016.9:g.731300G>C , CM000678.1:g.731300G>C GRCh37
NC_000016.8:g.671301G>C NCBI36
NG_034141.1:g.6190G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.308G>C (STUB1) MANE Select ENSP00000219548.4:p.Cys103Ser
ENST00000219548.8:c.308G>C (STUB1) ENSP00000219548.4:p.Cys103Ser
ENST00000563505.5:n.404G>C (STUB1)
ENST00000564370.5:c.92G>C (STUB1) ENSP00000456875.1:p.Cys31Ser
ENST00000565677.5:c.92G>C (STUB1) ENSP00000457228.1:p.Cys31Ser
ENST00000566181.2:n.77G>C (STUB1)
ENST00000566408.5:c.25G>C (STUB1)
ENST00000567173.5:c.251G>C (STUB1) ENSP00000456591.1:p.Cys84Ser
ENST00000567790.1:n.338G>C (STUB1)
ENST00000569248.5:n.882G>C (STUB1)
ENST00000620831.4:c.-50+37997G>C (MSLN) ENSP00000482893.1:n.-50+37997G>C
NM_001293197.1:c.92G>C (STUB1) NP_001280126.1:p.Cys31Ser
NM_005861.3:c.308G>C (STUB1) NP_005852.2:p.Cys103Ser
NM_005861.4:c.308G>C (STUB1) MANE Select NP_005852.2:p.Cys103Ser
NM_001293197.2:c.92G>C (STUB1) NP_001280126.1:p.Cys31Ser