Canonical Allele Identifier: CA10576907

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 228392
• ClinVar RCV Id: RCV000215649 ; RCV001090939 ; RCV003992237
• dbSNP Id: rs397507510
• COSMIC: COSM13011
• MyVariant Identifiers: chr12:g.112888165G>T (hg19) ; chr12:g.112450361G>T (hg38)
• CIViC: CA10576907
• PubMed: PMID:12717436 ; PMID:14644997 ; PMID:14982869 ; PMID:15604238 ; PMID:15644411 ; PMID:15842656 ; PMID:15928039 ; PMID:15987685 ; PMID:16358218 ; PMID:17020470 ; PMID:17910045 ; PMID:18925961 ; PMID:19047918 ; PMID:19179468 ; PMID:19773259 ; PMID:21555152 ; PMID:23334666 ; PMID:23832011 ; PMID:25097206

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450361G>T , CM000674.2:g.112450361G>T	GRCh38
NC_000012.11:g.112888165G>T , CM000674.1:g.112888165G>T	GRCh37
NC_000012.10:g.111372548G>T	NCBI36
NG_007459.1:g.36630G>T , LRG_614:g.36630G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.181G>T	ENSP00000491593.2:p.Asp61Tyr
ENST00000685487.1:c.181G>T	ENSP00000508503.1:p.Asp61Tyr
ENST00000687906.1:c.181G>T	ENSP00000509536.1:p.Asp61Tyr
ENST00000688597.1:c.181G>T	ENSP00000510628.1:p.Asp61Tyr
ENST00000690210.1:c.181G>T	ENSP00000509272.1:p.Asp61Tyr
ENST00000692624.1:c.181G>T	ENSP00000508953.1:p.Asp61Tyr
ENST00000351677.7:c.181G>T MANE Select	ENSP00000340944.3:p.Asp61Tyr
ENST00000639857.1:c.181G>T	ENSP00000491593.1:p.Asp61Tyr
ENST00000351677.6:c.181G>T	ENSP00000340944.2:p.Asp61Tyr
ENST00000392597.5:c.181G>T	ENSP00000376376.1:p.Asp61Tyr
ENST00000635625.1:c.181G>T	ENSP00000489597.1:p.Asp61Tyr
NM_002834.3:c.181G>T , LRG_614t1:c.181G>T	NP_002825.3:p.Asp61Tyr
NM_080601.1:c.181G>T	NP_542168.1:p.Asp61Tyr
XM_006719526.1:c.181G>T	XP_006719589.1:p.Asp61Tyr
XM_006719527.1:c.181G>T	XP_006719590.1:p.Asp61Tyr
XM_011538613.1:c.178G>T	XP_011536915.1:p.Asp60Tyr
NM_001330437.1:c.181G>T	NP_001317366.1:p.Asp61Tyr
NM_002834.4:c.181G>T	NP_002825.3:p.Asp61Tyr
NM_080601.2:c.181G>T	NP_542168.1:p.Asp61Tyr
XM_011538613.2:c.178G>T	XP_011536915.1:p.Asp60Tyr
XM_017019722.1:c.178G>T	XP_016875211.1:p.Asp60Tyr
NM_001330437.2:c.181G>T	NP_001317366.1:p.Asp61Tyr
NM_001374625.1:c.178G>T	NP_001361554.1:p.Asp60Tyr
NM_002834.5:c.181G>T MANE Select	NP_002825.3:p.Asp61Tyr
NM_080601.3:c.181G>T	NP_542168.1:p.Asp61Tyr