Canonical Allele Identifier: CA273459

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40558
• ClinVar RCV Id: RCV000033545 ; RCV000210040 ; RCV000515165 ; RCV000824750 ; RCV001028095 ; RCV001374913 ; RCV002390131 ; RCV004532494
• dbSNP Id: rs397507545
• gnomAD v2: 12-112926887-G-C
• gnomAD v4: 12-112489083-G-C
• COSMIC: COSM4384772
• MyVariant Identifiers: chr12:g.112926887G>C (hg19) ; chr12:g.112489083G>C (hg38)
• PubMed: PMID:12717436 ; PMID:15001945 ; PMID:15928039 ; PMID:16358218 ; PMID:18758896

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489083G>C , CM000674.2:g.112489083G>C	GRCh38
NC_000012.11:g.112926887G>C , CM000674.1:g.112926887G>C	GRCh37
NC_000012.10:g.111411270G>C	NCBI36
NG_007459.1:g.75352G>C , LRG_614:g.75352G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1507G>C	ENSP00000491593.2:p.Gly503Arg
ENST00000685487.1:c.1507G>C	ENSP00000508503.1:p.Gly503Arg
ENST00000687624.1:n.172G>C
ENST00000687906.1:c.1393G>C	ENSP00000509536.1:p.Gly465Arg
ENST00000688597.1:c.1224+6878G>C	ENSP00000510628.1:n.1224+6878G>C
ENST00000688701.1:n.751G>C
ENST00000690210.1:c.1507G>C	ENSP00000509272.1:p.Gly503Arg
ENST00000690472.1:n.716G>C
ENST00000692624.1:c.*53G>C	ENSP00000508953.1:n.*53G>C
ENST00000351677.7:c.1507G>C MANE Select	ENSP00000340944.3:p.Gly503Arg
ENST00000351677.6:c.1507G>C	ENSP00000340944.2:p.Gly503Arg
ENST00000635625.1:c.1519G>C	ENSP00000489597.1:p.Gly507Arg
ENST00000635652.1:c.520G>C	ENSP00000489541.1:p.Gly174Arg
NM_002834.3:c.1507G>C , LRG_614t1:c.1507G>C	NP_002825.3:p.Gly503Arg
XM_006719526.1:c.1519G>C	XP_006719589.1:p.Gly507Arg
XM_006719527.1:c.1405G>C	XP_006719590.1:p.Gly469Arg
XM_011538613.1:c.1516G>C	XP_011536915.1:p.Gly506Arg
NM_001330437.1:c.1519G>C	NP_001317366.1:p.Gly507Arg
NM_002834.4:c.1507G>C	NP_002825.3:p.Gly503Arg
XM_011538613.2:c.1516G>C	XP_011536915.1:p.Gly506Arg
XM_017019722.1:c.1504G>C	XP_016875211.1:p.Gly502Arg
NM_001330437.2:c.1519G>C	NP_001317366.1:p.Gly507Arg
NM_001374625.1:c.1504G>C	NP_001361554.1:p.Gly502Arg
NM_002834.5:c.1507G>C MANE Select	NP_002825.3:p.Gly503Arg