Canonical Allele Identifier: CA481882482

Gene: PTPN11

Linked Data

• MyVariant Identifiers: chr12:g.112926949A>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1569A>G	ENSP00000491593.2:p.Glu523=
ENST00000685487.1:c.1569A>G	ENSP00000508503.1:p.Glu523=
ENST00000687624.1:n.234A>G
ENST00000687906.1:c.1455A>G	ENSP00000509536.1:p.Glu485=
ENST00000688597.1:c.1224+6940A>G	ENSP00000510628.1:n.1224+6940A>G
ENST00000688701.1:n.813A>G
ENST00000690210.1:c.1569A>G	ENSP00000509272.1:p.Glu523=
ENST00000690472.1:n.778A>G
ENST00000692624.1:c.*115A>G	ENSP00000508953.1:n.*115A>G
ENST00000351677.7:c.1569A>G MANE Select	ENSP00000340944.3:p.Glu523=
ENST00000351677.6:c.1569A>G	ENSP00000340944.2:p.Glu523=
ENST00000635625.1:c.1581A>G	ENSP00000489597.1:p.Glu527=
ENST00000635652.1:c.582A>G	ENSP00000489541.1:p.Glu194=
NM_002834.3:c.1569A>G , LRG_614t1:c.1569A>G	NP_002825.3:p.Glu523=
XM_006719526.1:c.1581A>G	XP_006719589.1:p.Glu527=
XM_006719527.1:c.1467A>G	XP_006719590.1:p.Glu489=
XM_011538613.1:c.1578A>G	XP_011536915.1:p.Glu526=
NM_001330437.1:c.1581A>G	NP_001317366.1:p.Glu527=
NM_002834.4:c.1569A>G	NP_002825.3:p.Glu523=
XM_011538613.2:c.1578A>G	XP_011536915.1:p.Glu526=
XM_017019722.1:c.1566A>G	XP_016875211.1:p.Glu522=
NM_001330437.2:c.1581A>G	NP_001317366.1:p.Glu527=
NM_001374625.1:c.1566A>G	NP_001361554.1:p.Glu522=
NM_002834.5:c.1569A>G MANE Select	NP_002825.3:p.Glu523=