Canonical Allele Identifier: CA386779876

Gene: PTPN11

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489092C>A , CM000674.2:g.112489092C>A	GRCh38
NC_000012.11:g.112926896C>A , CM000674.1:g.112926896C>A	GRCh37
NC_000012.10:g.111411279C>A	NCBI36
NG_007459.1:g.75361C>A , LRG_614:g.75361C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1516C>A	ENSP00000491593.2:p.Gln506Lys
ENST00000685487.1:c.1516C>A	ENSP00000508503.1:p.Gln506Lys
ENST00000687624.1:n.181C>A
ENST00000687906.1:c.1402C>A	ENSP00000509536.1:p.Gln468Lys
ENST00000688597.1:c.1224+6887C>A	ENSP00000510628.1:n.1224+6887C>A
ENST00000688701.1:n.760C>A
ENST00000690210.1:c.1516C>A	ENSP00000509272.1:p.Gln506Lys
ENST00000690472.1:n.725C>A
ENST00000692624.1:c.*62C>A	ENSP00000508953.1:n.*62C>A
ENST00000351677.7:c.1516C>A MANE Select	ENSP00000340944.3:p.Gln506Lys
ENST00000351677.6:c.1516C>A	ENSP00000340944.2:p.Gln506Lys
ENST00000635625.1:c.1528C>A	ENSP00000489597.1:p.Gln510Lys
ENST00000635652.1:c.529C>A	ENSP00000489541.1:p.Gln177Lys
NM_002834.3:c.1516C>A , LRG_614t1:c.1516C>A	NP_002825.3:p.Gln506Lys
XM_006719526.1:c.1528C>A	XP_006719589.1:p.Gln510Lys
XM_006719527.1:c.1414C>A	XP_006719590.1:p.Gln472Lys
XM_011538613.1:c.1525C>A	XP_011536915.1:p.Gln509Lys
NM_001330437.1:c.1528C>A	NP_001317366.1:p.Gln510Lys
NM_002834.4:c.1516C>A	NP_002825.3:p.Gln506Lys
XM_011538613.2:c.1525C>A	XP_011536915.1:p.Gln509Lys
XM_017019722.1:c.1513C>A	XP_016875211.1:p.Gln505Lys
NM_001330437.2:c.1528C>A	NP_001317366.1:p.Gln510Lys
NM_001374625.1:c.1513C>A	NP_001361554.1:p.Gln505Lys
NM_002834.5:c.1516C>A MANE Select	NP_002825.3:p.Gln506Lys