Canonical Allele Identifier: CA386780055

Gene: PTPN11

Linked Data

• dbSNP Id: rs2135916647
• MyVariant Identifiers: chr12:g.112926947G>A (hg19) ; chr12:g.112489143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489143G>A , CM000674.2:g.112489143G>A	GRCh38
NC_000012.11:g.112926947G>A , CM000674.1:g.112926947G>A	GRCh37
NC_000012.10:g.111411330G>A	NCBI36
NG_007459.1:g.75412G>A , LRG_614:g.75412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1567G>A	ENSP00000491593.2:p.Glu523Lys
ENST00000685487.1:c.1567G>A	ENSP00000508503.1:p.Glu523Lys
ENST00000687624.1:n.232G>A
ENST00000687906.1:c.1453G>A	ENSP00000509536.1:p.Glu485Lys
ENST00000688597.1:c.1224+6938G>A	ENSP00000510628.1:n.1224+6938G>A
ENST00000688701.1:n.811G>A
ENST00000690210.1:c.1567G>A	ENSP00000509272.1:p.Glu523Lys
ENST00000690472.1:n.776G>A
ENST00000692624.1:c.*113G>A	ENSP00000508953.1:n.*113G>A
ENST00000351677.7:c.1567G>A MANE Select	ENSP00000340944.3:p.Glu523Lys
ENST00000351677.6:c.1567G>A	ENSP00000340944.2:p.Glu523Lys
ENST00000635625.1:c.1579G>A	ENSP00000489597.1:p.Glu527Lys
ENST00000635652.1:c.580G>A	ENSP00000489541.1:p.Glu194Lys
NM_002834.3:c.1567G>A , LRG_614t1:c.1567G>A	NP_002825.3:p.Glu523Lys
XM_006719526.1:c.1579G>A	XP_006719589.1:p.Glu527Lys
XM_006719527.1:c.1465G>A	XP_006719590.1:p.Glu489Lys
XM_011538613.1:c.1576G>A	XP_011536915.1:p.Glu526Lys
NM_001330437.1:c.1579G>A	NP_001317366.1:p.Glu527Lys
NM_002834.4:c.1567G>A	NP_002825.3:p.Glu523Lys
XM_011538613.2:c.1576G>A	XP_011536915.1:p.Glu526Lys
XM_017019722.1:c.1564G>A	XP_016875211.1:p.Glu522Lys
NM_001330437.2:c.1579G>A	NP_001317366.1:p.Glu527Lys
NM_001374625.1:c.1564G>A	NP_001361554.1:p.Glu522Lys
NM_002834.5:c.1567G>A MANE Select	NP_002825.3:p.Glu523Lys