Canonical Allele Identifier: CA394112421

Gene: STUB1 MSLN

Linked Data

• ClinVar Variation Id: 1687153
• ClinVar RCV Id: RCV002250835
• dbSNP Id: rs776620952
• gnomAD v4: 16-681548-C-T
• MyVariant Identifiers: chr16:g.731548C>T (hg19) ; chr16:g.681548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681548C>T , CM000678.2:g.681548C>T	GRCh38
NC_000016.9:g.731548C>T , CM000678.1:g.731548C>T	GRCh37
NC_000016.8:g.671549C>T	NCBI36
NG_034141.1:g.6438C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.469C>T (STUB1) MANE Select	ENSP00000219548.4:p.Gln157Ter
ENST00000219548.8:c.469C>T (STUB1)	ENSP00000219548.4:p.Gln157Ter
ENST00000563505.5:n.565C>T (STUB1)
ENST00000564316.1:c.68C>T (STUB1)
ENST00000564370.5:c.253C>T (STUB1)	ENSP00000456875.1:p.Gln85Ter
ENST00000565677.5:c.253C>T (STUB1)	ENSP00000457228.1:p.Gln85Ter
ENST00000566181.2:n.238C>T (STUB1)
ENST00000566408.5:c.186C>T (STUB1)
ENST00000567173.5:c.412C>T (STUB1)	ENSP00000456591.1:p.Gln138Ter
ENST00000569248.5:n.1043C>T (STUB1)
ENST00000620831.4:c.-50+38245C>T (MSLN)	ENSP00000482893.1:n.-50+38245C>T
NM_001293197.1:c.253C>T (STUB1)	NP_001280126.1:p.Gln85Ter
NM_005861.3:c.469C>T (STUB1)	NP_005852.2:p.Gln157Ter
NM_005861.4:c.469C>T (STUB1) MANE Select	NP_005852.2:p.Gln157Ter
NM_001293197.2:c.253C>T (STUB1)	NP_001280126.1:p.Gln85Ter