Canonical Allele Identifier: CA493008505

Linked Data

dbSNP Id: rs1454597433
gnomAD v2: 16-731560-C-T
gnomAD v4: 16-681560-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681560C>T , CM000678.2:g.681560C>T GRCh38
NC_000016.9:g.731560C>T , CM000678.1:g.731560C>T GRCh37
NC_000016.8:g.671561C>T NCBI36
NG_034141.1:g.6450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.481C>T (STUB1) MANE Select ENSP00000219548.4:p.Leu161=
ENST00000219548.8:c.481C>T (STUB1) ENSP00000219548.4:p.Leu161=
ENST00000563505.5:n.577C>T (STUB1)
ENST00000564316.1:c.80C>T (STUB1)
ENST00000564370.5:c.265C>T (STUB1) ENSP00000456875.1:p.Leu89=
ENST00000565677.5:c.265C>T (STUB1) ENSP00000457228.1:p.Leu89=
ENST00000566181.2:n.250C>T (STUB1)
ENST00000566408.5:c.198C>T (STUB1)
ENST00000567173.5:c.424C>T (STUB1) ENSP00000456591.1:p.Leu142=
ENST00000569248.5:n.1055C>T (STUB1)
ENST00000620831.4:c.-50+38257C>T (MSLN) ENSP00000482893.1:n.-50+38257C>T
NM_001293197.1:c.265C>T (STUB1) NP_001280126.1:p.Leu89=
NM_005861.3:c.481C>T (STUB1) NP_005852.2:p.Leu161=
NM_005861.4:c.481C>T (STUB1) MANE Select NP_005852.2:p.Leu161=
NM_001293197.2:c.265C>T (STUB1) NP_001280126.1:p.Leu89=