Canonical Allele Identifier: CA7786599

Linked Data

dbSNP Id: rs746448484
gnomAD v2: 16-731542-A-G
gnomAD v4: 16-681542-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681542A>G , CM000678.2:g.681542A>G GRCh38
NC_000016.9:g.731542A>G , CM000678.1:g.731542A>G GRCh37
NC_000016.8:g.671543A>G NCBI36
NG_034141.1:g.6432A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.463A>G (STUB1) MANE Select ENSP00000219548.4:p.Ile155Val
ENST00000219548.8:c.463A>G (STUB1) ENSP00000219548.4:p.Ile155Val
ENST00000563505.5:n.559A>G (STUB1)
ENST00000564316.1:c.62A>G (STUB1)
ENST00000564370.5:c.247A>G (STUB1) ENSP00000456875.1:p.Ile83Val
ENST00000565677.5:c.247A>G (STUB1) ENSP00000457228.1:p.Ile83Val
ENST00000566181.2:n.232A>G (STUB1)
ENST00000566408.5:c.180A>G (STUB1)
ENST00000567173.5:c.406A>G (STUB1) ENSP00000456591.1:p.Ile136Val
ENST00000569248.5:n.1037A>G (STUB1)
ENST00000620831.4:c.-50+38239A>G (MSLN) ENSP00000482893.1:n.-50+38239A>G
NM_001293197.1:c.247A>G (STUB1) NP_001280126.1:p.Ile83Val
NM_005861.3:c.463A>G (STUB1) NP_005852.2:p.Ile155Val
NM_005861.4:c.463A>G (STUB1) MANE Select NP_005852.2:p.Ile155Val
NM_001293197.2:c.247A>G (STUB1) NP_001280126.1:p.Ile83Val