Canonical Allele Identifier: CA386780082

Gene: PTPN11

Linked Data

• dbSNP Id: rs2135916669
• MyVariant Identifiers: chr12:g.112926951C>A (hg19) ; chr12:g.112489147C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489147C>A , CM000674.2:g.112489147C>A	GRCh38
NC_000012.11:g.112926951C>A , CM000674.1:g.112926951C>A	GRCh37
NC_000012.10:g.111411334C>A	NCBI36
NG_007459.1:g.75416C>A , LRG_614:g.75416C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1571C>A	ENSP00000491593.2:p.Thr524Lys
ENST00000685487.1:c.1571C>A	ENSP00000508503.1:p.Thr524Lys
ENST00000687624.1:n.236C>A
ENST00000687906.1:c.1457C>A	ENSP00000509536.1:p.Thr486Lys
ENST00000688597.1:c.1224+6942C>A	ENSP00000510628.1:n.1224+6942C>A
ENST00000688701.1:n.815C>A
ENST00000690210.1:c.1571C>A	ENSP00000509272.1:p.Thr524Lys
ENST00000690472.1:n.780C>A
ENST00000692624.1:c.*117C>A	ENSP00000508953.1:n.*117C>A
ENST00000351677.7:c.1571C>A MANE Select	ENSP00000340944.3:p.Thr524Lys
ENST00000351677.6:c.1571C>A	ENSP00000340944.2:p.Thr524Lys
ENST00000635625.1:c.1583C>A	ENSP00000489597.1:p.Thr528Lys
ENST00000635652.1:c.584C>A	ENSP00000489541.1:p.Thr195Lys
NM_002834.3:c.1571C>A , LRG_614t1:c.1571C>A	NP_002825.3:p.Thr524Lys
XM_006719526.1:c.1583C>A	XP_006719589.1:p.Thr528Lys
XM_006719527.1:c.1469C>A	XP_006719590.1:p.Thr490Lys
XM_011538613.1:c.1580C>A	XP_011536915.1:p.Thr527Lys
NM_001330437.1:c.1583C>A	NP_001317366.1:p.Thr528Lys
NM_002834.4:c.1571C>A	NP_002825.3:p.Thr524Lys
XM_011538613.2:c.1580C>A	XP_011536915.1:p.Thr527Lys
XM_017019722.1:c.1568C>A	XP_016875211.1:p.Thr523Lys
NM_001330437.2:c.1583C>A	NP_001317366.1:p.Thr528Lys
NM_001374625.1:c.1568C>A	NP_001361554.1:p.Thr523Lys
NM_002834.5:c.1571C>A MANE Select	NP_002825.3:p.Thr524Lys