Canonical Allele Identifier: CA235313

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40488
• ClinVar RCV Id: RCV000037629 ; RCV000157677 ; RCV000587067 ; RCV000556984 ; RCV001358687 ; RCV001813243
• dbSNP Id: rs397507506
• COSMIC: COSM1358884
• MyVariant Identifiers: chr12:g.112888158C>A (hg19) ; chr12:g.112450354C>A (hg38)
• PubMed: PMID:12634870 ; PMID:15928039 ; PMID:16358218 ; PMID:20954246 ; PMID:22190897 ; PMID:22465605 ; PMID:23321623 ; PMID:25914815

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450354C>A , CM000674.2:g.112450354C>A	GRCh38
NC_000012.11:g.112888158C>A , CM000674.1:g.112888158C>A	GRCh37
NC_000012.10:g.111372541C>A	NCBI36
NG_007459.1:g.36623C>A , LRG_614:g.36623C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.174C>A	ENSP00000491593.2:p.Asn58Lys
ENST00000685487.1:c.174C>A	ENSP00000508503.1:p.Asn58Lys
ENST00000687906.1:c.174C>A	ENSP00000509536.1:p.Asn58Lys
ENST00000688597.1:c.174C>A	ENSP00000510628.1:p.Asn58Lys
ENST00000690210.1:c.174C>A	ENSP00000509272.1:p.Asn58Lys
ENST00000692624.1:c.174C>A	ENSP00000508953.1:p.Asn58Lys
ENST00000351677.7:c.174C>A MANE Select	ENSP00000340944.3:p.Asn58Lys
ENST00000639857.1:c.174C>A	ENSP00000491593.1:p.Asn58Lys
ENST00000351677.6:c.174C>A	ENSP00000340944.2:p.Asn58Lys
ENST00000392597.5:c.174C>A	ENSP00000376376.1:p.Asn58Lys
ENST00000635625.1:c.174C>A	ENSP00000489597.1:p.Asn58Lys
NM_002834.3:c.174C>A , LRG_614t1:c.174C>A	NP_002825.3:p.Asn58Lys
NM_080601.1:c.174C>A	NP_542168.1:p.Asn58Lys
XM_006719526.1:c.174C>A	XP_006719589.1:p.Asn58Lys
XM_006719527.1:c.174C>A	XP_006719590.1:p.Asn58Lys
XM_011538613.1:c.171C>A	XP_011536915.1:p.Asn57Lys
NM_001330437.1:c.174C>A	NP_001317366.1:p.Asn58Lys
NM_002834.4:c.174C>A	NP_002825.3:p.Asn58Lys
NM_080601.2:c.174C>A	NP_542168.1:p.Asn58Lys
XM_011538613.2:c.171C>A	XP_011536915.1:p.Asn57Lys
XM_017019722.1:c.171C>A	XP_016875211.1:p.Asn57Lys
NM_001330437.2:c.174C>A	NP_001317366.1:p.Asn58Lys
NM_001374625.1:c.171C>A	NP_001361554.1:p.Asn57Lys
NM_002834.5:c.174C>A MANE Select	NP_002825.3:p.Asn58Lys
NM_080601.3:c.174C>A	NP_542168.1:p.Asn58Lys