Canonical Allele Identifier: CA273215

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40499
• ClinVar RCV Id: RCV000033470 ; RCV000151689 ; RCV000586528 ; RCV000686123 ; RCV003150933 ; RCV003924886
• dbSNP Id: rs397507512
• gnomAD v4: 12-112450391-T-C
• COSMIC: COSM13039
• MyVariant Identifiers: chr12:g.112888195T>C (hg19) ; chr12:g.112450391T>C (hg38)
• PubMed: PMID:12634870 ; PMID:15385933 ; PMID:15842656 ; PMID:15928039 ; PMID:16358218 ; PMID:16467864 ; PMID:18286234 ; PMID:18759865 ; PMID:19737548 ; PMID:21680795 ; PMID:22681964 ; PMID:24931631 ; PMID:25097206 ; PMID:27683039

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450391T>C , CM000674.2:g.112450391T>C	GRCh38
NC_000012.11:g.112888195T>C , CM000674.1:g.112888195T>C	GRCh37
NC_000012.10:g.111372578T>C	NCBI36
NG_007459.1:g.36660T>C , LRG_614:g.36660T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.211T>C	ENSP00000491593.2:p.Phe71Leu
ENST00000685487.1:c.211T>C	ENSP00000508503.1:p.Phe71Leu
ENST00000687906.1:c.211T>C	ENSP00000509536.1:p.Phe71Leu
ENST00000688597.1:c.211T>C	ENSP00000510628.1:p.Phe71Leu
ENST00000690210.1:c.211T>C	ENSP00000509272.1:p.Phe71Leu
ENST00000692624.1:c.211T>C	ENSP00000508953.1:p.Phe71Leu
ENST00000351677.7:c.211T>C MANE Select	ENSP00000340944.3:p.Phe71Leu
ENST00000639857.1:c.211T>C	ENSP00000491593.1:p.Phe71Leu
ENST00000351677.6:c.211T>C	ENSP00000340944.2:p.Phe71Leu
ENST00000392597.5:c.211T>C	ENSP00000376376.1:p.Phe71Leu
ENST00000635625.1:c.211T>C	ENSP00000489597.1:p.Phe71Leu
NM_002834.3:c.211T>C , LRG_614t1:c.211T>C	NP_002825.3:p.Phe71Leu
NM_080601.1:c.211T>C	NP_542168.1:p.Phe71Leu
XM_006719526.1:c.211T>C	XP_006719589.1:p.Phe71Leu
XM_006719527.1:c.211T>C	XP_006719590.1:p.Phe71Leu
XM_011538613.1:c.208T>C	XP_011536915.1:p.Phe70Leu
NM_001330437.1:c.211T>C	NP_001317366.1:p.Phe71Leu
NM_002834.4:c.211T>C	NP_002825.3:p.Phe71Leu
NM_080601.2:c.211T>C	NP_542168.1:p.Phe71Leu
XM_011538613.2:c.208T>C	XP_011536915.1:p.Phe70Leu
XM_017019722.1:c.208T>C	XP_016875211.1:p.Phe70Leu
NM_001330437.2:c.211T>C	NP_001317366.1:p.Phe71Leu
NM_001374625.1:c.208T>C	NP_001361554.1:p.Phe70Leu
NM_002834.5:c.211T>C MANE Select	NP_002825.3:p.Phe71Leu
NM_080601.3:c.211T>C	NP_542168.1:p.Phe71Leu