Canonical Allele Identifier: CA10588540

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 265307
• ClinVar RCV Id: RCV000255951 ; RCV001376031 ; RCV001330779 ; RCV001813438
• dbSNP Id: rs886039463
• COSMIC: COSM13036
• MyVariant Identifiers: chr12:g.112926900C>A (hg19) ; chr12:g.112489096C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489096C>A , CM000674.2:g.112489096C>A	GRCh38
NC_000012.11:g.112926900C>A , CM000674.1:g.112926900C>A	GRCh37
NC_000012.10:g.111411283C>A	NCBI36
NG_007459.1:g.75365C>A , LRG_614:g.75365C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1520C>A	ENSP00000491593.2:p.Thr507Lys
ENST00000685487.1:c.1520C>A	ENSP00000508503.1:p.Thr507Lys
ENST00000687624.1:n.185C>A
ENST00000687906.1:c.1406C>A	ENSP00000509536.1:p.Thr469Lys
ENST00000688597.1:c.1224+6891C>A	ENSP00000510628.1:n.1224+6891C>A
ENST00000688701.1:n.764C>A
ENST00000690210.1:c.1520C>A	ENSP00000509272.1:p.Thr507Lys
ENST00000690472.1:n.729C>A
ENST00000692624.1:c.*66C>A	ENSP00000508953.1:n.*66C>A
ENST00000351677.7:c.1520C>A MANE Select	ENSP00000340944.3:p.Thr507Lys
ENST00000351677.6:c.1520C>A	ENSP00000340944.2:p.Thr507Lys
ENST00000635625.1:c.1532C>A	ENSP00000489597.1:p.Thr511Lys
ENST00000635652.1:c.533C>A	ENSP00000489541.1:p.Thr178Lys
NM_002834.3:c.1520C>A , LRG_614t1:c.1520C>A	NP_002825.3:p.Thr507Lys
XM_006719526.1:c.1532C>A	XP_006719589.1:p.Thr511Lys
XM_006719527.1:c.1418C>A	XP_006719590.1:p.Thr473Lys
XM_011538613.1:c.1529C>A	XP_011536915.1:p.Thr510Lys
NM_001330437.1:c.1532C>A	NP_001317366.1:p.Thr511Lys
NM_002834.4:c.1520C>A	NP_002825.3:p.Thr507Lys
XM_011538613.2:c.1529C>A	XP_011536915.1:p.Thr510Lys
XM_017019722.1:c.1517C>A	XP_016875211.1:p.Thr506Lys
NM_001330437.2:c.1532C>A	NP_001317366.1:p.Thr511Lys
NM_001374625.1:c.1517C>A	NP_001361554.1:p.Thr506Lys
NM_002834.5:c.1520C>A MANE Select	NP_002825.3:p.Thr507Lys