Canonical Allele Identifier: CA7786589

Gene: STUB1 MSLN

Linked Data

• ClinVar Variation Id: 1943947
• ClinVar RCV Id: RCV002663053
• dbSNP Id: rs143361117
• ExAC: 16:731472 C / T
• gnomAD v2: 16-731472-C-T
• gnomAD v3: 16-681472-C-T
• gnomAD v4: 16-681472-C-T
• MyVariant Identifiers: chr16:g.731472C>T (hg19) ; chr16:g.681472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681472C>T , CM000678.2:g.681472C>T	GRCh38
NC_000016.9:g.731472C>T , CM000678.1:g.731472C>T	GRCh37
NC_000016.8:g.671473C>T	NCBI36
NG_034141.1:g.6362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.393C>T (STUB1) MANE Select	ENSP00000219548.4:p.Phe131=
ENST00000219548.8:c.393C>T (STUB1)	ENSP00000219548.4:p.Phe131=
ENST00000563505.5:n.489C>T (STUB1)
ENST00000564370.5:c.177C>T (STUB1)	ENSP00000456875.1:p.Phe59=
ENST00000565677.5:c.177C>T (STUB1)	ENSP00000457228.1:p.Phe59=
ENST00000566181.2:n.162C>T (STUB1)
ENST00000566408.5:c.110C>T (STUB1)
ENST00000567173.5:c.336C>T (STUB1)	ENSP00000456591.1:p.Phe112=
ENST00000569248.5:n.967C>T (STUB1)
ENST00000620831.4:c.-50+38169C>T (MSLN)	ENSP00000482893.1:n.-50+38169C>T
NM_001293197.1:c.177C>T (STUB1)	NP_001280126.1:p.Phe59=
NM_005861.3:c.393C>T (STUB1)	NP_005852.2:p.Phe131=
NM_005861.4:c.393C>T (STUB1) MANE Select	NP_005852.2:p.Phe131=
NM_001293197.2:c.177C>T (STUB1)	NP_001280126.1:p.Phe59=