Canonical Allele Identifier: CA261561

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40489
• ClinVar RCV Id: RCV000033457 ; RCV000037630 ; RCV000211846 ; RCV000515267 ; RCV000588173
• dbSNP Id: rs397507506
• COSMIC: COSM5945273
• MyVariant Identifiers: chr12:g.112888158C>G (hg19) ; chr12:g.112450354C>G (hg38)
• PubMed: PMID:12634870 ; PMID:15723289 ; PMID:15928039 ; PMID:16358218 ; PMID:18286234 ; PMID:20954246 ; PMID:22190897 ; PMID:23321623 ; PMID:25326637 ; PMID:25914815 ; PMID:26607044

Genomic Alleles

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

Transcript Alleles

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