Canonical Allele Identifier: CA123044
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 13338
dbSNP Id: rs121918465
COSMIC: COSM13017

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112450407A>G , CM000674.2:g.112450407A>G GRCh38
NC_000012.11:g.112888211A>G , CM000674.1:g.112888211A>G GRCh37
NC_000012.10:g.111372594A>G NCBI36
NG_007459.1:g.36676A>G , LRG_614:g.36676A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.227A>G ENSP00000491593.2:p.Glu76Gly
ENST00000685487.1:c.227A>G ENSP00000508503.1:p.Glu76Gly
ENST00000687906.1:c.227A>G ENSP00000509536.1:p.Glu76Gly
ENST00000688597.1:c.227A>G ENSP00000510628.1:p.Glu76Gly
ENST00000690210.1:c.227A>G ENSP00000509272.1:p.Glu76Gly
ENST00000692624.1:c.227A>G ENSP00000508953.1:p.Glu76Gly
ENST00000351677.7:c.227A>G MANE Select ENSP00000340944.3:p.Glu76Gly
ENST00000639857.1:c.227A>G ENSP00000491593.1:p.Glu76Gly
ENST00000351677.6:c.227A>G ENSP00000340944.2:p.Glu76Gly
ENST00000392597.5:c.227A>G ENSP00000376376.1:p.Glu76Gly
ENST00000635625.1:c.227A>G ENSP00000489597.1:p.Glu76Gly
NM_002834.3:c.227A>G , LRG_614t1:c.227A>G NP_002825.3:p.Glu76Gly
NM_080601.1:c.227A>G NP_542168.1:p.Glu76Gly
XM_006719526.1:c.227A>G XP_006719589.1:p.Glu76Gly
XM_006719527.1:c.227A>G XP_006719590.1:p.Glu76Gly
XM_011538613.1:c.224A>G XP_011536915.1:p.Glu75Gly
NM_001330437.1:c.227A>G NP_001317366.1:p.Glu76Gly
NM_002834.4:c.227A>G NP_002825.3:p.Glu76Gly
NM_080601.2:c.227A>G NP_542168.1:p.Glu76Gly
XM_011538613.2:c.224A>G XP_011536915.1:p.Glu75Gly
XM_017019722.1:c.224A>G XP_016875211.1:p.Glu75Gly
NM_001330437.2:c.227A>G NP_001317366.1:p.Glu76Gly
NM_001374625.1:c.224A>G NP_001361554.1:p.Glu75Gly
NM_002834.5:c.227A>G MANE Select NP_002825.3:p.Glu76Gly
NM_080601.3:c.227A>G NP_542168.1:p.Glu76Gly