Canonical Allele Identifier: CA394111788

Linked Data

gnomAD v4: 16-681350-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681350G>A , CM000678.2:g.681350G>A GRCh38
NC_000016.9:g.731350G>A , CM000678.1:g.731350G>A GRCh37
NC_000016.8:g.671351G>A NCBI36
NG_034141.1:g.6240G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.358G>A (STUB1) MANE Select ENSP00000219548.4:p.Ala120Thr
ENST00000219548.8:c.358G>A (STUB1) ENSP00000219548.4:p.Ala120Thr
ENST00000563505.5:n.454G>A (STUB1)
ENST00000564370.5:c.142G>A (STUB1) ENSP00000456875.1:p.Ala48Thr
ENST00000565677.5:c.142G>A (STUB1) ENSP00000457228.1:p.Ala48Thr
ENST00000566181.2:n.127G>A (STUB1)
ENST00000566408.5:c.75G>A (STUB1)
ENST00000567173.5:c.301G>A (STUB1) ENSP00000456591.1:p.Ala101Thr
ENST00000567790.1:n.388G>A (STUB1)
ENST00000569248.5:n.932G>A (STUB1)
ENST00000620831.4:c.-50+38047G>A (MSLN) ENSP00000482893.1:n.-50+38047G>A
NM_001293197.1:c.142G>A (STUB1) NP_001280126.1:p.Ala48Thr
NM_005861.3:c.358G>A (STUB1) NP_005852.2:p.Ala120Thr
NM_005861.4:c.358G>A (STUB1) MANE Select NP_005852.2:p.Ala120Thr
NM_001293197.2:c.142G>A (STUB1) NP_001280126.1:p.Ala48Thr