Canonical Allele Identifier: CA394112235

Linked Data

dbSNP Id: rs1235455048
gnomAD v2: 16-731516-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681516G>A , CM000678.2:g.681516G>A GRCh38
NC_000016.9:g.731516G>A , CM000678.1:g.731516G>A GRCh37
NC_000016.8:g.671517G>A NCBI36
NG_034141.1:g.6406G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.437G>A (STUB1) MANE Select ENSP00000219548.4:p.Arg146His
ENST00000219548.8:c.437G>A (STUB1) ENSP00000219548.4:p.Arg146His
ENST00000563505.5:n.533G>A (STUB1)
ENST00000564316.1:c.36G>A (STUB1)
ENST00000564370.5:c.221G>A (STUB1) ENSP00000456875.1:p.Arg74His
ENST00000565677.5:c.221G>A (STUB1) ENSP00000457228.1:p.Arg74His
ENST00000566181.2:n.206G>A (STUB1)
ENST00000566408.5:c.154G>A (STUB1)
ENST00000567173.5:c.380G>A (STUB1) ENSP00000456591.1:p.Arg127His
ENST00000569248.5:n.1011G>A (STUB1)
ENST00000620831.4:c.-50+38213G>A (MSLN) ENSP00000482893.1:n.-50+38213G>A
NM_001293197.1:c.221G>A (STUB1) NP_001280126.1:p.Arg74His
NM_005861.3:c.437G>A (STUB1) NP_005852.2:p.Arg146His
NM_005861.4:c.437G>A (STUB1) MANE Select NP_005852.2:p.Arg146His
NM_001293197.2:c.221G>A (STUB1) NP_001280126.1:p.Arg74His