Canonical Allele Identifier: CA6798807

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 2568097
• ClinVar RCV Id: RCV003297536 ; RCV003313327
• dbSNP Id: rs773825880
• ExAC: 12:112926926 A / G
• gnomAD v4: 12-112489122-A-G
• MyVariant Identifiers: chr12:g.112926926A>G (hg19) ; chr12:g.112489122A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489122A>G , CM000674.2:g.112489122A>G	GRCh38
NC_000012.11:g.112926926A>G , CM000674.1:g.112926926A>G	GRCh37
NC_000012.10:g.111411309A>G	NCBI36
NG_007459.1:g.75391A>G , LRG_614:g.75391A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1546A>G	ENSP00000491593.2:p.Met516Val
ENST00000685487.1:c.1546A>G	ENSP00000508503.1:p.Met516Val
ENST00000687624.1:n.211A>G
ENST00000687906.1:c.1432A>G	ENSP00000509536.1:p.Met478Val
ENST00000688597.1:c.1224+6917A>G	ENSP00000510628.1:n.1224+6917A>G
ENST00000688701.1:n.790A>G
ENST00000690210.1:c.1546A>G	ENSP00000509272.1:p.Met516Val
ENST00000690472.1:n.755A>G
ENST00000692624.1:c.*92A>G	ENSP00000508953.1:n.*92A>G
ENST00000351677.7:c.1546A>G MANE Select	ENSP00000340944.3:p.Met516Val
ENST00000351677.6:c.1546A>G	ENSP00000340944.2:p.Met516Val
ENST00000635625.1:c.1558A>G	ENSP00000489597.1:p.Met520Val
ENST00000635652.1:c.559A>G	ENSP00000489541.1:p.Met187Val
NM_002834.3:c.1546A>G , LRG_614t1:c.1546A>G	NP_002825.3:p.Met516Val
XM_006719526.1:c.1558A>G	XP_006719589.1:p.Met520Val
XM_006719527.1:c.1444A>G	XP_006719590.1:p.Met482Val
XM_011538613.1:c.1555A>G	XP_011536915.1:p.Met519Val
NM_001330437.1:c.1558A>G	NP_001317366.1:p.Met520Val
NM_002834.4:c.1546A>G	NP_002825.3:p.Met516Val
XM_011538613.2:c.1555A>G	XP_011536915.1:p.Met519Val
XM_017019722.1:c.1543A>G	XP_016875211.1:p.Met515Val
NM_001330437.2:c.1558A>G	NP_001317366.1:p.Met520Val
NM_001374625.1:c.1543A>G	NP_001361554.1:p.Met515Val
NM_002834.5:c.1546A>G MANE Select	NP_002825.3:p.Met516Val