Canonical Allele Identifier: CA261561
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 40489
ClinVar RCV Id: RCV000033457 RCV000037630 RCV000211846 RCV000515267 RCV000588173
dbSNP Id: rs397507506
COSMIC: COSM5945273
MyVariant Identifiers: chr12:g.112888158C>G (hg19) chr12:g.112450354C>G (hg38)
PubMed: PMID:12634870 PMID:15723289 PMID:15928039 PMID:16358218 PMID:18286234 PMID:20954246 PMID:22190897 PMID:23321623 PMID:25326637 PMID:25914815 PMID:26607044
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112450354C>G , CM000674.2:g.112450354C>G GRCh38
NC_000012.11:g.112888158C>G , CM000674.1:g.112888158C>G GRCh37
NC_000012.10:g.111372541C>G NCBI36
NG_007459.1:g.36623C>G , LRG_614:g.36623C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.174C>G ENSP00000491593.2:p.Asn58Lys
ENST00000685487.1:c.174C>G ENSP00000508503.1:p.Asn58Lys
ENST00000687906.1:c.174C>G ENSP00000509536.1:p.Asn58Lys
ENST00000688597.1:c.174C>G ENSP00000510628.1:p.Asn58Lys
ENST00000690210.1:c.174C>G ENSP00000509272.1:p.Asn58Lys
ENST00000692624.1:c.174C>G ENSP00000508953.1:p.Asn58Lys
ENST00000351677.7:c.174C>G MANE Select ENSP00000340944.3:p.Asn58Lys
ENST00000639857.1:c.174C>G ENSP00000491593.1:p.Asn58Lys
ENST00000351677.6:c.174C>G ENSP00000340944.2:p.Asn58Lys
ENST00000392597.5:c.174C>G ENSP00000376376.1:p.Asn58Lys
ENST00000635625.1:c.174C>G ENSP00000489597.1:p.Asn58Lys
NM_002834.3:c.174C>G , LRG_614t1:c.174C>G NP_002825.3:p.Asn58Lys
NM_080601.1:c.174C>G NP_542168.1:p.Asn58Lys
XM_006719526.1:c.174C>G XP_006719589.1:p.Asn58Lys
XM_006719527.1:c.174C>G XP_006719590.1:p.Asn58Lys
XM_011538613.1:c.171C>G XP_011536915.1:p.Asn57Lys
NM_001330437.1:c.174C>G NP_001317366.1:p.Asn58Lys
NM_002834.4:c.174C>G NP_002825.3:p.Asn58Lys
NM_080601.2:c.174C>G NP_542168.1:p.Asn58Lys
XM_011538613.2:c.171C>G XP_011536915.1:p.Asn57Lys
XM_017019722.1:c.171C>G XP_016875211.1:p.Asn57Lys
NM_001330437.2:c.174C>G NP_001317366.1:p.Asn58Lys
NM_001374625.1:c.171C>G NP_001361554.1:p.Asn57Lys
NM_002834.5:c.174C>G MANE Select NP_002825.3:p.Asn58Lys
NM_080601.3:c.174C>G NP_542168.1:p.Asn58Lys
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