Canonical Allele Identifier: CA276565227

Gene: STUB1 MSLN

Linked Data

• dbSNP Id: rs373392008
• gnomAD v4: 16-681444-G-T
• MyVariant Identifiers: chr16:g.731444G>T (hg19) ; chr16:g.681444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.681444G>T , CM000678.2:g.681444G>T	GRCh38
NC_000016.9:g.731444G>T , CM000678.1:g.731444G>T	GRCh37
NC_000016.8:g.671445G>T	NCBI36
NG_034141.1:g.6334G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219548.9:c.365G>T (STUB1) MANE Select	ENSP00000219548.4:p.Ser122Ile
ENST00000219548.8:c.365G>T (STUB1)	ENSP00000219548.4:p.Ser122Ile
ENST00000563505.5:n.461G>T (STUB1)
ENST00000564370.5:c.149G>T (STUB1)	ENSP00000456875.1:p.Ser50Ile
ENST00000565677.5:c.149G>T (STUB1)	ENSP00000457228.1:p.Ser50Ile
ENST00000566181.2:n.134G>T (STUB1)
ENST00000566408.5:c.82G>T (STUB1)
ENST00000567173.5:c.308G>T (STUB1)	ENSP00000456591.1:p.Ser103Ile
ENST00000569248.5:n.939G>T (STUB1)
ENST00000620831.4:c.-50+38141G>T (MSLN)	ENSP00000482893.1:n.-50+38141G>T
NM_001293197.1:c.149G>T (STUB1)	NP_001280126.1:p.Ser50Ile
NM_005861.3:c.365G>T (STUB1)	NP_005852.2:p.Ser122Ile
NM_005861.4:c.365G>T (STUB1) MANE Select	NP_005852.2:p.Ser122Ile
NM_001293197.2:c.149G>T (STUB1)	NP_001280126.1:p.Ser50Ile