Canonical Allele Identifier: CA481882459

Gene: PTPN11

Linked Data

• dbSNP Id: rs2135916645
• MyVariant Identifiers: chr12:g.112926946T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489142T>A , CM000674.2:g.112489142T>A	GRCh38
NC_000012.11:g.112926946T>A , CM000674.1:g.112926946T>A	GRCh37
NC_000012.10:g.111411329T>A	NCBI36
NG_007459.1:g.75411T>A , LRG_614:g.75411T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1566T>A	ENSP00000491593.2:p.Ile522=
ENST00000685487.1:c.1566T>A	ENSP00000508503.1:p.Ile522=
ENST00000687624.1:n.231T>A
ENST00000687906.1:c.1452T>A	ENSP00000509536.1:p.Ile484=
ENST00000688597.1:c.1224+6937T>A	ENSP00000510628.1:n.1224+6937T>A
ENST00000688701.1:n.810T>A
ENST00000690210.1:c.1566T>A	ENSP00000509272.1:p.Ile522=
ENST00000690472.1:n.775T>A
ENST00000692624.1:c.*112T>A	ENSP00000508953.1:n.*112T>A
ENST00000351677.7:c.1566T>A MANE Select	ENSP00000340944.3:p.Ile522=
ENST00000351677.6:c.1566T>A	ENSP00000340944.2:p.Ile522=
ENST00000635625.1:c.1578T>A	ENSP00000489597.1:p.Ile526=
ENST00000635652.1:c.579T>A	ENSP00000489541.1:p.Ile193=
NM_002834.3:c.1566T>A , LRG_614t1:c.1566T>A	NP_002825.3:p.Ile522=
XM_006719526.1:c.1578T>A	XP_006719589.1:p.Ile526=
XM_006719527.1:c.1464T>A	XP_006719590.1:p.Ile488=
XM_011538613.1:c.1575T>A	XP_011536915.1:p.Ile525=
NM_001330437.1:c.1578T>A	NP_001317366.1:p.Ile526=
NM_002834.4:c.1566T>A	NP_002825.3:p.Ile522=
XM_011538613.2:c.1575T>A	XP_011536915.1:p.Ile525=
XM_017019722.1:c.1563T>A	XP_016875211.1:p.Ile521=
NM_001330437.2:c.1578T>A	NP_001317366.1:p.Ile526=
NM_001374625.1:c.1563T>A	NP_001361554.1:p.Ile521=
NM_002834.5:c.1566T>A MANE Select	NP_002825.3:p.Ile522=