Canonical Allele Identifier: CA220140
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 40562
ClinVar RCV Id: RCV000033549 RCV000077853 RCV000156983 RCV000677652 RCV000762887 RCV001027841 RCV002390132 RCV003991572 RCV004532496
dbSNP Id: rs397507547
gnomAD v2: 12-112926890-A-G
gnomAD v4: 12-112489086-A-G
COSMIC: COSM4603683
MyVariant Identifiers: chr12:g.112926890A>G (hg19) chr12:g.112489086A>G (hg38)
PubMed: PMID:1258892 PMID:1543375 PMID:4025385 PMID:4386970 PMID:8530013 PMID:9222968 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12717436 PMID:12960218 PMID:15723289 PMID:15834506 PMID:15956085 PMID:16358218 PMID:16377799 PMID:16523510 PMID:16924159 PMID:17020470 PMID:17056636 PMID:17143285 PMID:17222357 PMID:17339163 PMID:17546245 PMID:17661820 PMID:18331608 PMID:18678287 PMID:19020799 PMID:19077116 PMID:19206169 PMID:19467855 PMID:21396583 PMID:21407260 PMID:21500339 PMID:21533187 PMID:25862627 PMID:26249544 PMID:26297936 PMID:26607044 PMID:26817465 PMID:27521173 PMID:27619028
ERepo: CA220140/MONDO:0018997/004
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489086A>G , CM000674.2:g.112489086A>G GRCh38
NC_000012.11:g.112926890A>G , CM000674.1:g.112926890A>G GRCh37
NC_000012.10:g.111411273A>G NCBI36
NG_007459.1:g.75355A>G , LRG_614:g.75355A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1510A>G ENSP00000491593.2:p.Met504Val
ENST00000685487.1:c.1510A>G ENSP00000508503.1:p.Met504Val
ENST00000687624.1:n.175A>G
ENST00000687906.1:c.1396A>G ENSP00000509536.1:p.Met466Val
ENST00000688597.1:c.1224+6881A>G ENSP00000510628.1:n.1224+6881A>G
ENST00000688701.1:n.754A>G
ENST00000690210.1:c.1510A>G ENSP00000509272.1:p.Met504Val
ENST00000690472.1:n.719A>G
ENST00000692624.1:c.*56A>G ENSP00000508953.1:n.*56A>G
ENST00000351677.7:c.1510A>G MANE Select ENSP00000340944.3:p.Met504Val
ENST00000351677.6:c.1510A>G ENSP00000340944.2:p.Met504Val
ENST00000635625.1:c.1522A>G ENSP00000489597.1:p.Met508Val
ENST00000635652.1:c.523A>G ENSP00000489541.1:p.Met175Val
NM_002834.3:c.1510A>G , LRG_614t1:c.1510A>G NP_002825.3:p.Met504Val
XM_006719526.1:c.1522A>G XP_006719589.1:p.Met508Val
XM_006719527.1:c.1408A>G XP_006719590.1:p.Met470Val
XM_011538613.1:c.1519A>G XP_011536915.1:p.Met507Val
NM_001330437.1:c.1522A>G NP_001317366.1:p.Met508Val
NM_002834.4:c.1510A>G NP_002825.3:p.Met504Val
XM_011538613.2:c.1519A>G XP_011536915.1:p.Met507Val
XM_017019722.1:c.1507A>G XP_016875211.1:p.Met503Val
NM_001330437.2:c.1522A>G NP_001317366.1:p.Met508Val
NM_001374625.1:c.1507A>G NP_001361554.1:p.Met503Val
NM_002834.5:c.1510A>G MANE Select NP_002825.3:p.Met504Val
Search 100 bp 5'
Search 100 bp 3'