Canonical Allele Identifier: CA493008419

Gene: STUB1 MSLN

Linked Data

• ClinVar Variation Id: 2013971
• ClinVar RCV Id: RCV002861270
• dbSNP Id: rs1204705762
• gnomAD v2: 16-731463-G-C
• gnomAD v4: 16-681463-G-C
• MyVariant Identifiers: chr16:g.731463G>C (hg19) ; chr16:g.681463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681463G>C , CM000678.2:g.681463G>C	GRCh38
NC_000016.9:g.731463G>C , CM000678.1:g.731463G>C	GRCh37
NC_000016.8:g.671464G>C	NCBI36
NG_034141.1:g.6353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.384G>C (STUB1) MANE Select	ENSP00000219548.4:p.Arg128=
ENST00000219548.8:c.384G>C (STUB1)	ENSP00000219548.4:p.Arg128=
ENST00000563505.5:n.480G>C (STUB1)
ENST00000564370.5:c.168G>C (STUB1)	ENSP00000456875.1:p.Arg56=
ENST00000565677.5:c.168G>C (STUB1)	ENSP00000457228.1:p.Arg56=
ENST00000566181.2:n.153G>C (STUB1)
ENST00000566408.5:c.101G>C (STUB1)
ENST00000567173.5:c.327G>C (STUB1)	ENSP00000456591.1:p.Arg109=
ENST00000569248.5:n.958G>C (STUB1)
ENST00000620831.4:c.-50+38160G>C (MSLN)	ENSP00000482893.1:n.-50+38160G>C
NM_001293197.1:c.168G>C (STUB1)	NP_001280126.1:p.Arg56=
NM_005861.3:c.384G>C (STUB1)	NP_005852.2:p.Arg128=
NM_005861.4:c.384G>C (STUB1) MANE Select	NP_005852.2:p.Arg128=
NM_001293197.2:c.168G>C (STUB1)	NP_001280126.1:p.Arg56=