Canonical Allele Identifier: CA220134
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 13331
ClinVar RCV Id: RCV000033533 RCV000055884 RCV000077851 RCV000106323 RCV000157014 RCV000208002 RCV000515406 RCV000723326 RCV000853462 RCV001813197 RCV002390104
dbSNP Id: rs121918457
ExAC: 12:112926270 C / T
gnomAD v2: 12-112926270-C-T
gnomAD v3: 12-112488466-C-T
gnomAD v4: 12-112488466-C-T
COSMIC: COSM170715
MyVariant Identifiers: chr12:g.112926270C>T (hg19) chr12:g.112488466C>T (hg38)
ERepo: CA220134/MONDO:0007893/004
PubMed: PMID:1258892 PMID:1543375 PMID:4025385 PMID:4386970 PMID:8530013 PMID:9222968 PMID:11704759 PMID:12058348 PMID:12960218 PMID:15520399 PMID:16338218 PMID:16358218 PMID:16377799 PMID:16523510 PMID:16638574 PMID:17056636 PMID:17222357 PMID:17935252 PMID:18372317 PMID:18373317 PMID:18849586 PMID:19054014 PMID:19133693 PMID:19174044 PMID:19206169 PMID:19467855 PMID:20301557 PMID:20308328 PMID:20493809 PMID:20535210 PMID:20883402 PMID:21396583 PMID:21500339 PMID:21533187 PMID:22555271 PMID:22585553 PMID:22681964 PMID:24767283 PMID:24935154 PMID:25884655 PMID:26249544 PMID:26297936 PMID:27521173 PMID:27619028
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112488466C>T , CM000674.2:g.112488466C>T GRCh38
NC_000012.11:g.112926270C>T , CM000674.1:g.112926270C>T GRCh37
NC_000012.10:g.111410653C>T NCBI36
NG_007459.1:g.74735C>T , LRG_614:g.74735C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1403C>T ENSP00000491593.2:p.Thr468Met
ENST00000685487.1:c.1403C>T ENSP00000508503.1:p.Thr468Met
ENST00000687624.1:n.68C>T
ENST00000687906.1:c.1289C>T ENSP00000509536.1:p.Thr430Met
ENST00000688597.1:c.1224+6261C>T ENSP00000510628.1:n.1224+6261C>T
ENST00000688701.1:n.647C>T
ENST00000690210.1:c.1403C>T ENSP00000509272.1:p.Thr468Met
ENST00000690472.1:n.612C>T
ENST00000692624.1:c.1380-558C>T ENSP00000508953.1:n.1380-558C>T
ENST00000351677.7:c.1403C>T MANE Select ENSP00000340944.3:p.Thr468Met
ENST00000351677.6:c.1403C>T ENSP00000340944.2:p.Thr468Met
ENST00000635625.1:c.1415C>T ENSP00000489597.1:p.Thr472Met
ENST00000635652.1:c.416C>T ENSP00000489541.1:p.Thr139Met
NM_002834.3:c.1403C>T , LRG_614t1:c.1403C>T NP_002825.3:p.Thr468Met
XM_006719526.1:c.1415C>T XP_006719589.1:p.Thr472Met
XM_006719527.1:c.1301C>T XP_006719590.1:p.Thr434Met
XM_011538613.1:c.1412C>T XP_011536915.1:p.Thr471Met
NM_001330437.1:c.1415C>T NP_001317366.1:p.Thr472Met
NM_002834.4:c.1403C>T NP_002825.3:p.Thr468Met
XM_011538613.2:c.1412C>T XP_011536915.1:p.Thr471Met
XM_017019722.1:c.1400C>T XP_016875211.1:p.Thr467Met
NM_001330437.2:c.1415C>T NP_001317366.1:p.Thr472Met
NM_001374625.1:c.1400C>T NP_001361554.1:p.Thr467Met
NM_002834.5:c.1403C>T MANE Select NP_002825.3:p.Thr468Met
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