Canonical Allele Identifier: CA386780067

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 561713
• ClinVar RCV Id: RCV000681078
• dbSNP Id: rs1566186902
• MyVariant Identifiers: chr12:g.112926949A>C (hg19) ; chr12:g.112489145A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489145A>C , CM000674.2:g.112489145A>C	GRCh38
NC_000012.11:g.112926949A>C , CM000674.1:g.112926949A>C	GRCh37
NC_000012.10:g.111411332A>C	NCBI36
NG_007459.1:g.75414A>C , LRG_614:g.75414A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1569A>C	ENSP00000491593.2:p.Glu523Asp
ENST00000685487.1:c.1569A>C	ENSP00000508503.1:p.Glu523Asp
ENST00000687624.1:n.234A>C
ENST00000687906.1:c.1455A>C	ENSP00000509536.1:p.Glu485Asp
ENST00000688597.1:c.1224+6940A>C	ENSP00000510628.1:n.1224+6940A>C
ENST00000688701.1:n.813A>C
ENST00000690210.1:c.1569A>C	ENSP00000509272.1:p.Glu523Asp
ENST00000690472.1:n.778A>C
ENST00000692624.1:c.*115A>C	ENSP00000508953.1:n.*115A>C
ENST00000351677.7:c.1569A>C MANE Select	ENSP00000340944.3:p.Glu523Asp
ENST00000351677.6:c.1569A>C	ENSP00000340944.2:p.Glu523Asp
ENST00000635625.1:c.1581A>C	ENSP00000489597.1:p.Glu527Asp
ENST00000635652.1:c.582A>C	ENSP00000489541.1:p.Glu194Asp
NM_002834.3:c.1569A>C , LRG_614t1:c.1569A>C	NP_002825.3:p.Glu523Asp
XM_006719526.1:c.1581A>C	XP_006719589.1:p.Glu527Asp
XM_006719527.1:c.1467A>C	XP_006719590.1:p.Glu489Asp
XM_011538613.1:c.1578A>C	XP_011536915.1:p.Glu526Asp
NM_001330437.1:c.1581A>C	NP_001317366.1:p.Glu527Asp
NM_002834.4:c.1569A>C	NP_002825.3:p.Glu523Asp
XM_011538613.2:c.1578A>C	XP_011536915.1:p.Glu526Asp
XM_017019722.1:c.1566A>C	XP_016875211.1:p.Glu522Asp
NM_001330437.2:c.1581A>C	NP_001317366.1:p.Glu527Asp
NM_001374625.1:c.1566A>C	NP_001361554.1:p.Glu522Asp
NM_002834.5:c.1569A>C MANE Select	NP_002825.3:p.Glu523Asp