Canonical Allele Identifier: CA386779820

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489074C>G , CM000674.2:g.112489074C>G	GRCh38
NC_000012.11:g.112926878C>G , CM000674.1:g.112926878C>G	GRCh37
NC_000012.10:g.111411261C>G	NCBI36
NG_007459.1:g.75343C>G , LRG_614:g.75343C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1498C>G	ENSP00000491593.2:p.Gln500Glu
ENST00000685487.1:c.1498C>G	ENSP00000508503.1:p.Gln500Glu
ENST00000687624.1:n.163C>G
ENST00000687906.1:c.1384C>G	ENSP00000509536.1:p.Gln462Glu
ENST00000688597.1:c.1224+6869C>G	ENSP00000510628.1:n.1224+6869C>G
ENST00000688701.1:n.742C>G
ENST00000690210.1:c.1498C>G	ENSP00000509272.1:p.Gln500Glu
ENST00000690472.1:n.707C>G
ENST00000692624.1:c.*44C>G	ENSP00000508953.1:n.*44C>G
ENST00000351677.7:c.1498C>G MANE Select	ENSP00000340944.3:p.Gln500Glu
ENST00000351677.6:c.1498C>G	ENSP00000340944.2:p.Gln500Glu
ENST00000635625.1:c.1510C>G	ENSP00000489597.1:p.Gln504Glu
ENST00000635652.1:c.511C>G	ENSP00000489541.1:p.Gln171Glu
NM_002834.3:c.1498C>G , LRG_614t1:c.1498C>G	NP_002825.3:p.Gln500Glu
XM_006719526.1:c.1510C>G	XP_006719589.1:p.Gln504Glu
XM_006719527.1:c.1396C>G	XP_006719590.1:p.Gln466Glu
XM_011538613.1:c.1507C>G	XP_011536915.1:p.Gln503Glu
NM_001330437.1:c.1510C>G	NP_001317366.1:p.Gln504Glu
NM_002834.4:c.1498C>G	NP_002825.3:p.Gln500Glu
XM_011538613.2:c.1507C>G	XP_011536915.1:p.Gln503Glu
XM_017019722.1:c.1495C>G	XP_016875211.1:p.Gln499Glu
NM_001330437.2:c.1510C>G	NP_001317366.1:p.Gln504Glu
NM_001374625.1:c.1495C>G	NP_001361554.1:p.Gln499Glu
NM_002834.5:c.1498C>G MANE Select	NP_002825.3:p.Gln500Glu