Canonical Allele Identifier: CA282070

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40494
• ClinVar RCV Id: RCV000033462 ; RCV000589874 ; RCV002408495
• dbSNP Id: rs397507510
• COSMIC: COSM20900
• MyVariant Identifiers: chr12:g.112888165G>C (hg19) ; chr12:g.112450361G>C (hg38)
• PubMed: PMID:15842656 ; PMID:20112233 ; PMID:25097206 ; PMID:25253770

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.181G>C	ENSP00000491593.2:p.Asp61His
ENST00000685487.1:c.181G>C	ENSP00000508503.1:p.Asp61His
ENST00000687906.1:c.181G>C	ENSP00000509536.1:p.Asp61His
ENST00000688597.1:c.181G>C	ENSP00000510628.1:p.Asp61His
ENST00000690210.1:c.181G>C	ENSP00000509272.1:p.Asp61His
ENST00000692624.1:c.181G>C	ENSP00000508953.1:p.Asp61His
ENST00000351677.7:c.181G>C MANE Select	ENSP00000340944.3:p.Asp61His
ENST00000639857.1:c.181G>C	ENSP00000491593.1:p.Asp61His
ENST00000351677.6:c.181G>C	ENSP00000340944.2:p.Asp61His
ENST00000392597.5:c.181G>C	ENSP00000376376.1:p.Asp61His
ENST00000635625.1:c.181G>C	ENSP00000489597.1:p.Asp61His
NM_002834.3:c.181G>C , LRG_614t1:c.181G>C	NP_002825.3:p.Asp61His
NM_080601.1:c.181G>C	NP_542168.1:p.Asp61His
XM_006719526.1:c.181G>C	XP_006719589.1:p.Asp61His
XM_006719527.1:c.181G>C	XP_006719590.1:p.Asp61His
XM_011538613.1:c.178G>C	XP_011536915.1:p.Asp60His
NM_001330437.1:c.181G>C	NP_001317366.1:p.Asp61His
NM_002834.4:c.181G>C	NP_002825.3:p.Asp61His
NM_080601.2:c.181G>C	NP_542168.1:p.Asp61His
XM_011538613.2:c.178G>C	XP_011536915.1:p.Asp60His
XM_017019722.1:c.178G>C	XP_016875211.1:p.Asp60His
NM_001330437.2:c.181G>C	NP_001317366.1:p.Asp61His
NM_001374625.1:c.178G>C	NP_001361554.1:p.Asp60His
NM_002834.5:c.181G>C MANE Select	NP_002825.3:p.Asp61His
NM_080601.3:c.181G>C	NP_542168.1:p.Asp61His