Canonical Allele Identifier: CA282129

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40560
• ClinVar RCV Id: RCV000419381 ; RCV000430281 ; RCV000429259 ; RCV000439943 ; RCV000440091 ; RCV000505671
• dbSNP Id: rs397507546
• COSMIC: COSM14271
• MyVariant Identifiers: chr12:g.112926888G>T (hg19) ; chr12:g.112489084G>T (hg38)
• PubMed: PMID:26619011 ; PMID:26822237

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1508G>T	ENSP00000491593.2:p.Gly503Val
ENST00000685487.1:c.1508G>T	ENSP00000508503.1:p.Gly503Val
ENST00000687624.1:n.173G>T
ENST00000687906.1:c.1394G>T	ENSP00000509536.1:p.Gly465Val
ENST00000688597.1:c.1224+6879G>T	ENSP00000510628.1:n.1224+6879G>T
ENST00000688701.1:n.752G>T
ENST00000690210.1:c.1508G>T	ENSP00000509272.1:p.Gly503Val
ENST00000690472.1:n.717G>T
ENST00000692624.1:c.*54G>T	ENSP00000508953.1:n.*54G>T
ENST00000351677.7:c.1508G>T MANE Select	ENSP00000340944.3:p.Gly503Val
ENST00000351677.6:c.1508G>T	ENSP00000340944.2:p.Gly503Val
ENST00000635625.1:c.1520G>T	ENSP00000489597.1:p.Gly507Val
ENST00000635652.1:c.521G>T	ENSP00000489541.1:p.Gly174Val
NM_002834.3:c.1508G>T , LRG_614t1:c.1508G>T	NP_002825.3:p.Gly503Val
XM_006719526.1:c.1520G>T	XP_006719589.1:p.Gly507Val
XM_006719527.1:c.1406G>T	XP_006719590.1:p.Gly469Val
XM_011538613.1:c.1517G>T	XP_011536915.1:p.Gly506Val
NM_001330437.1:c.1520G>T	NP_001317366.1:p.Gly507Val
NM_002834.4:c.1508G>T	NP_002825.3:p.Gly503Val
XM_011538613.2:c.1517G>T	XP_011536915.1:p.Gly506Val
XM_017019722.1:c.1505G>T	XP_016875211.1:p.Gly502Val
NM_001330437.2:c.1520G>T	NP_001317366.1:p.Gly507Val
NM_001374625.1:c.1505G>T	NP_001361554.1:p.Gly502Val
NM_002834.5:c.1508G>T MANE Select	NP_002825.3:p.Gly503Val