Canonical Allele Identifier: CA273451

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40553
• ClinVar RCV Id: RCV000033539 ; RCV000055885 ; RCV000254686 ; RCV000722171 ; RCV000824747 ; RCV001813259 ; RCV002490447 ; RCV004018715 ; RCV004532493
• dbSNP Id: rs397507541
• gnomAD v2: 12-112926872-C-T
• gnomAD v3: 12-112489068-C-T
• gnomAD v4: 12-112489068-C-T
• COSMIC: COSM1948765
• MyVariant Identifiers: chr12:g.112926872C>T (hg19) ; chr12:g.112489068C>T (hg38)
• PubMed: PMID:1258892 ; PMID:1543375 ; PMID:4025385 ; PMID:4386970 ; PMID:8530013 ; PMID:9222968 ; PMID:11704759 ; PMID:12960218 ; PMID:15121796 ; PMID:15928039 ; PMID:16369799 ; PMID:16523510 ; PMID:17056636 ; PMID:17222357 ; PMID:19206169 ; PMID:19467855 ; PMID:20301557 ; PMID:21396583 ; PMID:21500339 ; PMID:21533187 ; PMID:26249544 ; PMID:26297936 ; PMID:27521173 ; PMID:27619028

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489068C>T , CM000674.2:g.112489068C>T	GRCh38
NC_000012.11:g.112926872C>T , CM000674.1:g.112926872C>T	GRCh37
NC_000012.10:g.111411255C>T	NCBI36
NG_007459.1:g.75337C>T , LRG_614:g.75337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1492C>T	ENSP00000491593.2:p.Arg498Trp
ENST00000685487.1:c.1492C>T	ENSP00000508503.1:p.Arg498Trp
ENST00000687624.1:n.157C>T
ENST00000687906.1:c.1378C>T	ENSP00000509536.1:p.Arg460Trp
ENST00000688597.1:c.1224+6863C>T	ENSP00000510628.1:n.1224+6863C>T
ENST00000688701.1:n.736C>T
ENST00000690210.1:c.1492C>T	ENSP00000509272.1:p.Arg498Trp
ENST00000690472.1:n.701C>T
ENST00000692624.1:c.*38C>T	ENSP00000508953.1:n.*38C>T
ENST00000351677.7:c.1492C>T MANE Select	ENSP00000340944.3:p.Arg498Trp
ENST00000351677.6:c.1492C>T	ENSP00000340944.2:p.Arg498Trp
ENST00000635625.1:c.1504C>T	ENSP00000489597.1:p.Arg502Trp
ENST00000635652.1:c.505C>T	ENSP00000489541.1:p.Arg169Trp
NM_002834.3:c.1492C>T , LRG_614t1:c.1492C>T	NP_002825.3:p.Arg498Trp
XM_006719526.1:c.1504C>T	XP_006719589.1:p.Arg502Trp
XM_006719527.1:c.1390C>T	XP_006719590.1:p.Arg464Trp
XM_011538613.1:c.1501C>T	XP_011536915.1:p.Arg501Trp
NM_001330437.1:c.1504C>T	NP_001317366.1:p.Arg502Trp
NM_002834.4:c.1492C>T	NP_002825.3:p.Arg498Trp
XM_011538613.2:c.1501C>T	XP_011536915.1:p.Arg501Trp
XM_017019722.1:c.1489C>T	XP_016875211.1:p.Arg497Trp
NM_001330437.2:c.1504C>T	NP_001317366.1:p.Arg502Trp
NM_001374625.1:c.1489C>T	NP_001361554.1:p.Arg497Trp
NM_002834.5:c.1492C>T MANE Select	NP_002825.3:p.Arg498Trp