Canonical Allele Identifier: CA220134

Gene: PTPN11

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

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