Canonical Allele Identifier: CA261546

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40551
• ClinVar RCV Id: RCV000033537 ; RCV000037617 ; RCV001378165 ; RCV002490446 ; RCV001730478 ; RCV002390130
• dbSNP Id: rs397507540
• MyVariant Identifiers: chr12:g.112926852C>A (hg19) ; chr12:g.112489048C>A (hg38)
• PubMed: PMID:17020470 ; PMID:17546245

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489048C>A , CM000674.2:g.112489048C>A	GRCh38
NC_000012.11:g.112926852C>A , CM000674.1:g.112926852C>A	GRCh37
NC_000012.10:g.111411235C>A	NCBI36
NG_007459.1:g.75317C>A , LRG_614:g.75317C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1472C>A	ENSP00000491593.2:p.Pro491His
ENST00000685487.1:c.1472C>A	ENSP00000508503.1:p.Pro491His
ENST00000687624.1:n.137C>A
ENST00000687906.1:c.1358C>A	ENSP00000509536.1:p.Pro453His
ENST00000688597.1:c.1224+6843C>A	ENSP00000510628.1:n.1224+6843C>A
ENST00000688701.1:n.716C>A
ENST00000690210.1:c.1472C>A	ENSP00000509272.1:p.Pro491His
ENST00000690472.1:n.681C>A
ENST00000692624.1:c.*18C>A	ENSP00000508953.1:n.*18C>A
ENST00000351677.7:c.1472C>A MANE Select	ENSP00000340944.3:p.Pro491His
ENST00000351677.6:c.1472C>A	ENSP00000340944.2:p.Pro491His
ENST00000635625.1:c.1484C>A	ENSP00000489597.1:p.Pro495His
ENST00000635652.1:c.485C>A	ENSP00000489541.1:p.Pro162His
NM_002834.3:c.1472C>A , LRG_614t1:c.1472C>A	NP_002825.3:p.Pro491His
XM_006719526.1:c.1484C>A	XP_006719589.1:p.Pro495His
XM_006719527.1:c.1370C>A	XP_006719590.1:p.Pro457His
XM_011538613.1:c.1481C>A	XP_011536915.1:p.Pro494His
NM_001330437.1:c.1484C>A	NP_001317366.1:p.Pro495His
NM_002834.4:c.1472C>A	NP_002825.3:p.Pro491His
XM_011538613.2:c.1481C>A	XP_011536915.1:p.Pro494His
XM_017019722.1:c.1469C>A	XP_016875211.1:p.Pro490His
NM_001330437.2:c.1484C>A	NP_001317366.1:p.Pro495His
NM_001374625.1:c.1469C>A	NP_001361554.1:p.Pro490His
NM_002834.5:c.1472C>A MANE Select	NP_002825.3:p.Pro491His