Canonical Allele Identifier: CA2063741178

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489129T= , CM000674.2:g.112489129T=	GRCh38
NC_000012.11:g.112926933T= , CM000674.1:g.112926933T=	GRCh37
NC_000012.10:g.111411316T=	NCBI36
NG_007459.1:g.75398T= , LRG_614:g.75398T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1553T=	ENSP00000491593.2:p.Val518=
ENST00000685487.1:c.1553T=	ENSP00000508503.1:p.Val518=
ENST00000687624.1:n.218T=
ENST00000687906.1:c.1439T=	ENSP00000509536.1:p.Val480=
ENST00000688597.1:c.1224+6924T=	ENSP00000510628.1:n.1224+6924T=
ENST00000688701.1:n.797T=
ENST00000690210.1:c.1553T=	ENSP00000509272.1:p.Val518=
ENST00000690472.1:n.762T=
ENST00000692624.1:c.*99T=	ENSP00000508953.1:n.*99T=
ENST00000351677.7:c.1553T= MANE Select	ENSP00000340944.3:p.Val518=
ENST00000351677.6:c.1553T=	ENSP00000340944.2:p.Val518=
ENST00000635625.1:c.1565T=	ENSP00000489597.1:p.Val522=
ENST00000635652.1:c.566T=	ENSP00000489541.1:p.Val189=
NM_002834.3:c.1553T= , LRG_614t1:c.1553T=	NP_002825.3:p.Val518=
XM_006719526.1:c.1565T=	XP_006719589.1:p.Val522=
XM_006719527.1:c.1451T=	XP_006719590.1:p.Val484=
XM_011538613.1:c.1562T=	XP_011536915.1:p.Val521=
NM_001330437.1:c.1565T=	NP_001317366.1:p.Val522=
NM_002834.4:c.1553T=	NP_002825.3:p.Val518=
XM_011538613.2:c.1562T=	XP_011536915.1:p.Val521=
XM_017019722.1:c.1550T=	XP_016875211.1:p.Val517=
NM_001330437.2:c.1565T=	NP_001317366.1:p.Val522=
NM_001374625.1:c.1550T=	NP_001361554.1:p.Val517=
NM_002834.5:c.1553T= MANE Select	NP_002825.3:p.Val518=