Canonical Allele Identifier: CA354651723

Gene: STAG1

Linked Data

• ClinVar Variation Id: 437899
• ClinVar RCV Id: RCV000504582 ; RCV000507507 ; RCV000623868 ; RCV002524398
• dbSNP Id: rs1376334317
• gnomAD v2: 3-136192388-C-T
• gnomAD v4: 3-136473546-C-T
• MyVariant Identifiers: chr3:g.136192388C>T (hg19) ; chr3:g.136473546C>T (hg38)
• PubMed: PMID:22542183 ; PMID:22604720 ; PMID:23020937 ; PMID:24896178 ; PMID:28119487

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136473546C>T , CM000665.2:g.136473546C>T	GRCh38
NC_000003.11:g.136192388C>T , CM000665.1:g.136192388C>T	GRCh37
NC_000003.10:g.137675078C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000383202.7:c.1118G>A MANE Select	ENSP00000372689.2:p.Arg373Gln
ENST00000236698.9:c.1118G>A	ENSP00000236698.5:p.Arg373Gln
ENST00000383202.6:c.1118G>A	ENSP00000372689.2:p.Arg373Gln
ENST00000434713.6:c.440G>A	ENSP00000404396.2:p.Arg147Gln
ENST00000483235.5:c.*1210G>A	ENSP00000419093.1:n.*1210G>A
ENST00000487065.5:c.*757G>A	ENSP00000418472.1:n.*757G>A
ENST00000492318.1:c.58G>A
ENST00000629124.2:c.*757G>A	ENSP00000486745.1:n.*757G>A
NM_005862.2:c.1118G>A	NP_005853.2:p.Arg373Gln
XM_011512329.1:c.707G>A	XP_011510631.1:p.Arg236Gln
XM_011512330.1:c.707G>A	XP_011510632.1:p.Arg236Gln
XM_011512331.1:c.707G>A	XP_011510633.1:p.Arg236Gln
XM_011512332.1:c.440G>A	XP_011510634.1:p.Arg147Gln
XM_011512333.1:c.707G>A	XP_011510635.1:p.Arg236Gln
XM_011512329.2:c.707G>A	XP_011510631.1:p.Arg236Gln
XM_011512331.2:c.707G>A	XP_011510633.1:p.Arg236Gln
XM_017005523.1:c.707G>A	XP_016861012.1:p.Arg236Gln
XM_017005524.2:c.440G>A	XP_016861013.1:p.Arg147Gln
XR_001739978.1:n.1396G>A
NM_005862.3:c.1118G>A MANE Select	NP_005853.2:p.Arg373Gln