Canonical Allele Identifier: CA123044

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 13338
• ClinVar RCV Id: RCV000014266 ; RCV000159046 ; RCV000420699 ; RCV000437713 ; RCV000419574 ; RCV000427060 ; RCV000437931 ; RCV002513040
• dbSNP Id: rs121918465
• COSMIC: COSM13017
• MyVariant Identifiers: chr12:g.112888211A>G (hg19) ; chr12:g.112450407A>G (hg38)
• PubMed: PMID:12717436 ; PMID:14644997 ; PMID:14982869 ; PMID:15385933 ; PMID:15928039 ; PMID:16358218 ; PMID:16518851 ; PMID:17177198 ; PMID:19047918 ; PMID:23756559 ; PMID:25097206 ; PMID:26619011 ; PMID:28098151

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450407A>G , CM000674.2:g.112450407A>G	GRCh38
NC_000012.11:g.112888211A>G , CM000674.1:g.112888211A>G	GRCh37
NC_000012.10:g.111372594A>G	NCBI36
NG_007459.1:g.36676A>G , LRG_614:g.36676A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.227A>G	ENSP00000491593.2:p.Glu76Gly
ENST00000685487.1:c.227A>G	ENSP00000508503.1:p.Glu76Gly
ENST00000687906.1:c.227A>G	ENSP00000509536.1:p.Glu76Gly
ENST00000688597.1:c.227A>G	ENSP00000510628.1:p.Glu76Gly
ENST00000690210.1:c.227A>G	ENSP00000509272.1:p.Glu76Gly
ENST00000692624.1:c.227A>G	ENSP00000508953.1:p.Glu76Gly
ENST00000351677.7:c.227A>G MANE Select	ENSP00000340944.3:p.Glu76Gly
ENST00000639857.1:c.227A>G	ENSP00000491593.1:p.Glu76Gly
ENST00000351677.6:c.227A>G	ENSP00000340944.2:p.Glu76Gly
ENST00000392597.5:c.227A>G	ENSP00000376376.1:p.Glu76Gly
ENST00000635625.1:c.227A>G	ENSP00000489597.1:p.Glu76Gly
NM_002834.3:c.227A>G , LRG_614t1:c.227A>G	NP_002825.3:p.Glu76Gly
NM_080601.1:c.227A>G	NP_542168.1:p.Glu76Gly
XM_006719526.1:c.227A>G	XP_006719589.1:p.Glu76Gly
XM_006719527.1:c.227A>G	XP_006719590.1:p.Glu76Gly
XM_011538613.1:c.224A>G	XP_011536915.1:p.Glu75Gly
NM_001330437.1:c.227A>G	NP_001317366.1:p.Glu76Gly
NM_002834.4:c.227A>G	NP_002825.3:p.Glu76Gly
NM_080601.2:c.227A>G	NP_542168.1:p.Glu76Gly
XM_011538613.2:c.224A>G	XP_011536915.1:p.Glu75Gly
XM_017019722.1:c.224A>G	XP_016875211.1:p.Glu75Gly
NM_001330437.2:c.227A>G	NP_001317366.1:p.Glu76Gly
NM_001374625.1:c.224A>G	NP_001361554.1:p.Glu75Gly
NM_002834.5:c.227A>G MANE Select	NP_002825.3:p.Glu76Gly
NM_080601.3:c.227A>G	NP_542168.1:p.Glu76Gly