Canonical Allele Identifier: CA394112102

Gene: STUB1 MSLN

Linked Data

• dbSNP Id: rs1464067702
• gnomAD v2: 16-731483-T-C
• MyVariant Identifiers: chr16:g.731483T>C (hg19) ; chr16:g.681483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681483T>C , CM000678.2:g.681483T>C	GRCh38
NC_000016.9:g.731483T>C , CM000678.1:g.731483T>C	GRCh37
NC_000016.8:g.671484T>C	NCBI36
NG_034141.1:g.6373T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.404T>C (STUB1) MANE Select	ENSP00000219548.4:p.Ile135Thr
ENST00000219548.8:c.404T>C (STUB1)	ENSP00000219548.4:p.Ile135Thr
ENST00000563505.5:n.500T>C (STUB1)
ENST00000564316.1:c.3T>C (STUB1)
ENST00000564370.5:c.188T>C (STUB1)	ENSP00000456875.1:p.Ile63Thr
ENST00000565677.5:c.188T>C (STUB1)	ENSP00000457228.1:p.Ile63Thr
ENST00000566181.2:n.173T>C (STUB1)
ENST00000566408.5:c.121T>C (STUB1)
ENST00000567173.5:c.347T>C (STUB1)	ENSP00000456591.1:p.Ile116Thr
ENST00000569248.5:n.978T>C (STUB1)
ENST00000620831.4:c.-50+38180T>C (MSLN)	ENSP00000482893.1:n.-50+38180T>C
NM_001293197.1:c.188T>C (STUB1)	NP_001280126.1:p.Ile63Thr
NM_005861.3:c.404T>C (STUB1)	NP_005852.2:p.Ile135Thr
NM_005861.4:c.404T>C (STUB1) MANE Select	NP_005852.2:p.Ile135Thr
NM_001293197.2:c.188T>C (STUB1)	NP_001280126.1:p.Ile63Thr