Canonical Allele Identifier: CA282132

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40561
• ClinVar RCV Id: RCV000033548 ; RCV000532971 ; RCV000677651 ; RCV001330778 ; RCV002490448 ; RCV003450655
• dbSNP Id: rs397507546
• gnomAD v3: 12-112489084-G-A
• gnomAD v4: 12-112489084-G-A
• COSMIC: COSM13021
• MyVariant Identifiers: chr12:g.112926888G>A (hg19) ; chr12:g.112489084G>A (hg38)
• PubMed: PMID:16358218 ; PMID:18678287 ; PMID:23756559 ; PMID:25961944 ; PMID:26785492

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489084G>A , CM000674.2:g.112489084G>A	GRCh38
NC_000012.11:g.112926888G>A , CM000674.1:g.112926888G>A	GRCh37
NC_000012.10:g.111411271G>A	NCBI36
NG_007459.1:g.75353G>A , LRG_614:g.75353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1508G>A	ENSP00000491593.2:p.Gly503Glu
ENST00000685487.1:c.1508G>A	ENSP00000508503.1:p.Gly503Glu
ENST00000687624.1:n.173G>A
ENST00000687906.1:c.1394G>A	ENSP00000509536.1:p.Gly465Glu
ENST00000688597.1:c.1224+6879G>A	ENSP00000510628.1:n.1224+6879G>A
ENST00000688701.1:n.752G>A
ENST00000690210.1:c.1508G>A	ENSP00000509272.1:p.Gly503Glu
ENST00000690472.1:n.717G>A
ENST00000692624.1:c.*54G>A	ENSP00000508953.1:n.*54G>A
ENST00000351677.7:c.1508G>A MANE Select	ENSP00000340944.3:p.Gly503Glu
ENST00000351677.6:c.1508G>A	ENSP00000340944.2:p.Gly503Glu
ENST00000635625.1:c.1520G>A	ENSP00000489597.1:p.Gly507Glu
ENST00000635652.1:c.521G>A	ENSP00000489541.1:p.Gly174Glu
NM_002834.3:c.1508G>A , LRG_614t1:c.1508G>A	NP_002825.3:p.Gly503Glu
XM_006719526.1:c.1520G>A	XP_006719589.1:p.Gly507Glu
XM_006719527.1:c.1406G>A	XP_006719590.1:p.Gly469Glu
XM_011538613.1:c.1517G>A	XP_011536915.1:p.Gly506Glu
NM_001330437.1:c.1520G>A	NP_001317366.1:p.Gly507Glu
NM_002834.4:c.1508G>A	NP_002825.3:p.Gly503Glu
XM_011538613.2:c.1517G>A	XP_011536915.1:p.Gly506Glu
XM_017019722.1:c.1505G>A	XP_016875211.1:p.Gly502Glu
NM_001330437.2:c.1520G>A	NP_001317366.1:p.Gly507Glu
NM_001374625.1:c.1505G>A	NP_001361554.1:p.Gly502Glu
NM_002834.5:c.1508G>A MANE Select	NP_002825.3:p.Gly503Glu