Canonical Allele Identifier: CA151393

Gene: STUB1 MSLN

Linked Data

• ClinVar Variation Id: 127147
• ClinVar RCV Id: RCV000115002
• dbSNP Id: rs587777344
• MyVariant Identifiers: chr16:g.731446C>G (hg19) ; chr16:g.681446C>G (hg38)
• PubMed: PMID:24742043

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681446C>G , CM000678.2:g.681446C>G	GRCh38
NC_000016.9:g.731446C>G , CM000678.1:g.731446C>G	GRCh37
NC_000016.8:g.671447C>G	NCBI36
NG_034141.1:g.6336C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000219548.9:c.367C>G (STUB1) MANE Select	ENSP00000219548.4:p.Leu123Val
ENST00000219548.8:c.367C>G (STUB1)	ENSP00000219548.4:p.Leu123Val
ENST00000563505.5:n.463C>G (STUB1)
ENST00000564370.5:c.151C>G (STUB1)	ENSP00000456875.1:p.Leu51Val
ENST00000565677.5:c.151C>G (STUB1)	ENSP00000457228.1:p.Leu51Val
ENST00000566181.2:n.136C>G (STUB1)
ENST00000566408.5:c.84C>G (STUB1)
ENST00000567173.5:c.310C>G (STUB1)	ENSP00000456591.1:p.Leu104Val
ENST00000569248.5:n.941C>G (STUB1)
ENST00000620831.4:c.-50+38143C>G (MSLN)	ENSP00000482893.1:n.-50+38143C>G
NM_001293197.1:c.151C>G (STUB1)	NP_001280126.1:p.Leu51Val
NM_005861.3:c.367C>G (STUB1)	NP_005852.2:p.Leu123Val
NM_005861.4:c.367C>G (STUB1) MANE Select	NP_005852.2:p.Leu123Val
NM_001293197.2:c.151C>G (STUB1)	NP_001280126.1:p.Leu51Val