Canonical Allele Identifier: CA276565306

Linked Data

dbSNP Id: rs1003852324
gnomAD v2: 16-731490-C-T
gnomAD v3: 16-681490-C-T
gnomAD v4: 16-681490-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681490C>T , CM000678.2:g.681490C>T GRCh38
NC_000016.9:g.731490C>T , CM000678.1:g.731490C>T GRCh37
NC_000016.8:g.671491C>T NCBI36
NG_034141.1:g.6380C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.411C>T (STUB1) MANE Select ENSP00000219548.4:p.Ser137=
ENST00000219548.8:c.411C>T (STUB1) ENSP00000219548.4:p.Ser137=
ENST00000563505.5:n.507C>T (STUB1)
ENST00000564316.1:c.10C>T (STUB1)
ENST00000564370.5:c.195C>T (STUB1) ENSP00000456875.1:p.Ser65=
ENST00000565677.5:c.195C>T (STUB1) ENSP00000457228.1:p.Ser65=
ENST00000566181.2:n.180C>T (STUB1)
ENST00000566408.5:c.128C>T (STUB1)
ENST00000567173.5:c.354C>T (STUB1) ENSP00000456591.1:p.Ser118=
ENST00000569248.5:n.985C>T (STUB1)
ENST00000620831.4:c.-50+38187C>T (MSLN) ENSP00000482893.1:n.-50+38187C>T
NM_001293197.1:c.195C>T (STUB1) NP_001280126.1:p.Ser65=
NM_005861.3:c.411C>T (STUB1) NP_005852.2:p.Ser137=
NM_005861.4:c.411C>T (STUB1) MANE Select NP_005852.2:p.Ser137=
NM_001293197.2:c.195C>T (STUB1) NP_001280126.1:p.Ser65=