Canonical Allele Identifier: CA220137

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40559
• ClinVar RCV Id: RCV000033546 ; RCV000077852 ; RCV000157015 ; RCV000660241 ; RCV000618529 ; RCV000762886 ; RCV000824749 ; RCV001813261 ; RCV003147310 ; RCV003147311 ; RCV004532495
• dbSNP Id: rs397507545
• gnomAD v4: 12-112489083-G-A
• COSMIC: COSM14259
• MyVariant Identifiers: chr12:g.112926887G>A (hg19) ; chr12:g.112489083G>A (hg38)
• PubMed: PMID:12717436 ; PMID:12960218 ; PMID:15001945 ; PMID:15928039 ; PMID:16358218 ; PMID:18470943 ; PMID:18678287 ; PMID:18758896 ; PMID:21407260 ; PMID:22465605 ; PMID:23334668 ; PMID:23513489 ; PMID:23756559 ; PMID:24754368 ; PMID:24803665 ; PMID:26785492 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489083G>A , CM000674.2:g.112489083G>A	GRCh38
NC_000012.11:g.112926887G>A , CM000674.1:g.112926887G>A	GRCh37
NC_000012.10:g.111411270G>A	NCBI36
NG_007459.1:g.75352G>A , LRG_614:g.75352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1507G>A	ENSP00000491593.2:p.Gly503Arg
ENST00000685487.1:c.1507G>A	ENSP00000508503.1:p.Gly503Arg
ENST00000687624.1:n.172G>A
ENST00000687906.1:c.1393G>A	ENSP00000509536.1:p.Gly465Arg
ENST00000688597.1:c.1224+6878G>A	ENSP00000510628.1:n.1224+6878G>A
ENST00000688701.1:n.751G>A
ENST00000690210.1:c.1507G>A	ENSP00000509272.1:p.Gly503Arg
ENST00000690472.1:n.716G>A
ENST00000692624.1:c.*53G>A	ENSP00000508953.1:n.*53G>A
ENST00000351677.7:c.1507G>A MANE Select	ENSP00000340944.3:p.Gly503Arg
ENST00000351677.6:c.1507G>A	ENSP00000340944.2:p.Gly503Arg
ENST00000635625.1:c.1519G>A	ENSP00000489597.1:p.Gly507Arg
ENST00000635652.1:c.520G>A	ENSP00000489541.1:p.Gly174Arg
NM_002834.3:c.1507G>A , LRG_614t1:c.1507G>A	NP_002825.3:p.Gly503Arg
XM_006719526.1:c.1519G>A	XP_006719589.1:p.Gly507Arg
XM_006719527.1:c.1405G>A	XP_006719590.1:p.Gly469Arg
XM_011538613.1:c.1516G>A	XP_011536915.1:p.Gly506Arg
NM_001330437.1:c.1519G>A	NP_001317366.1:p.Gly507Arg
NM_002834.4:c.1507G>A	NP_002825.3:p.Gly503Arg
XM_011538613.2:c.1516G>A	XP_011536915.1:p.Gly506Arg
XM_017019722.1:c.1504G>A	XP_016875211.1:p.Gly502Arg
NM_001330437.2:c.1519G>A	NP_001317366.1:p.Gly507Arg
NM_001374625.1:c.1504G>A	NP_001361554.1:p.Gly502Arg
NM_002834.5:c.1507G>A MANE Select	NP_002825.3:p.Gly503Arg