Canonical Allele Identifier: CA394112001

Linked Data

gnomAD v4: 16-681464-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.681464C>G , CM000678.2:g.681464C>G GRCh38
NC_000016.9:g.731464C>G , CM000678.1:g.731464C>G GRCh37
NC_000016.8:g.671465C>G NCBI36
NG_034141.1:g.6354C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000219548.9:c.385C>G (STUB1) MANE Select ENSP00000219548.4:p.Leu129Val
ENST00000219548.8:c.385C>G (STUB1) ENSP00000219548.4:p.Leu129Val
ENST00000563505.5:n.481C>G (STUB1)
ENST00000564370.5:c.169C>G (STUB1) ENSP00000456875.1:p.Leu57Val
ENST00000565677.5:c.169C>G (STUB1) ENSP00000457228.1:p.Leu57Val
ENST00000566181.2:n.154C>G (STUB1)
ENST00000566408.5:c.102C>G (STUB1)
ENST00000567173.5:c.328C>G (STUB1) ENSP00000456591.1:p.Leu110Val
ENST00000569248.5:n.959C>G (STUB1)
ENST00000620831.4:c.-50+38161C>G (MSLN) ENSP00000482893.1:n.-50+38161C>G
NM_001293197.1:c.169C>G (STUB1) NP_001280126.1:p.Leu57Val
NM_005861.3:c.385C>G (STUB1) NP_005852.2:p.Leu129Val
NM_005861.4:c.385C>G (STUB1) MANE Select NP_005852.2:p.Leu129Val
NM_001293197.2:c.169C>G (STUB1) NP_001280126.1:p.Leu57Val