Canonical Allele Identifier: CA386779912

Gene: PTPN11

Linked Data

• dbSNP Id: rs2135916461
• MyVariant Identifiers: chr12:g.112926906C>A (hg19) ; chr12:g.112489102C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489102C>A , CM000674.2:g.112489102C>A	GRCh38
NC_000012.11:g.112926906C>A , CM000674.1:g.112926906C>A	GRCh37
NC_000012.10:g.111411289C>A	NCBI36
NG_007459.1:g.75371C>A , LRG_614:g.75371C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1526C>A	ENSP00000491593.2:p.Ala509Glu
ENST00000685487.1:c.1526C>A	ENSP00000508503.1:p.Ala509Glu
ENST00000687624.1:n.191C>A
ENST00000687906.1:c.1412C>A	ENSP00000509536.1:p.Ala471Glu
ENST00000688597.1:c.1224+6897C>A	ENSP00000510628.1:n.1224+6897C>A
ENST00000688701.1:n.770C>A
ENST00000690210.1:c.1526C>A	ENSP00000509272.1:p.Ala509Glu
ENST00000690472.1:n.735C>A
ENST00000692624.1:c.*72C>A	ENSP00000508953.1:n.*72C>A
ENST00000351677.7:c.1526C>A MANE Select	ENSP00000340944.3:p.Ala509Glu
ENST00000351677.6:c.1526C>A	ENSP00000340944.2:p.Ala509Glu
ENST00000635625.1:c.1538C>A	ENSP00000489597.1:p.Ala513Glu
ENST00000635652.1:c.539C>A	ENSP00000489541.1:p.Ala180Glu
NM_002834.3:c.1526C>A , LRG_614t1:c.1526C>A	NP_002825.3:p.Ala509Glu
XM_006719526.1:c.1538C>A	XP_006719589.1:p.Ala513Glu
XM_006719527.1:c.1424C>A	XP_006719590.1:p.Ala475Glu
XM_011538613.1:c.1535C>A	XP_011536915.1:p.Ala512Glu
NM_001330437.1:c.1538C>A	NP_001317366.1:p.Ala513Glu
NM_002834.4:c.1526C>A	NP_002825.3:p.Ala509Glu
XM_011538613.2:c.1535C>A	XP_011536915.1:p.Ala512Glu
XM_017019722.1:c.1523C>A	XP_016875211.1:p.Ala508Glu
NM_001330437.2:c.1538C>A	NP_001317366.1:p.Ala513Glu
NM_001374625.1:c.1523C>A	NP_001361554.1:p.Ala508Glu
NM_002834.5:c.1526C>A MANE Select	NP_002825.3:p.Ala509Glu