Canonical Allele Identifier: CA394112230

Linked Data

dbSNP Id: rs1477627016
gnomAD v2: 16-731515-C-G
gnomAD v3: 16-681515-C-G
gnomAD v4: 16-681515-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681515C>G , CM000678.2:g.681515C>G GRCh38
NC_000016.9:g.731515C>G , CM000678.1:g.731515C>G GRCh37
NC_000016.8:g.671516C>G NCBI36
NG_034141.1:g.6405C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.436C>G (STUB1) MANE Select ENSP00000219548.4:p.Arg146Gly
ENST00000219548.8:c.436C>G (STUB1) ENSP00000219548.4:p.Arg146Gly
ENST00000563505.5:n.532C>G (STUB1)
ENST00000564316.1:c.35C>G (STUB1)
ENST00000564370.5:c.220C>G (STUB1) ENSP00000456875.1:p.Arg74Gly
ENST00000565677.5:c.220C>G (STUB1) ENSP00000457228.1:p.Arg74Gly
ENST00000566181.2:n.205C>G (STUB1)
ENST00000566408.5:c.153C>G (STUB1)
ENST00000567173.5:c.379C>G (STUB1) ENSP00000456591.1:p.Arg127Gly
ENST00000569248.5:n.1010C>G (STUB1)
ENST00000620831.4:c.-50+38212C>G (MSLN) ENSP00000482893.1:n.-50+38212C>G
NM_001293197.1:c.220C>G (STUB1) NP_001280126.1:p.Arg74Gly
NM_005861.3:c.436C>G (STUB1) NP_005852.2:p.Arg146Gly
NM_005861.4:c.436C>G (STUB1) MANE Select NP_005852.2:p.Arg146Gly
NM_001293197.2:c.220C>G (STUB1) NP_001280126.1:p.Arg74Gly