Canonical Allele Identifier: CA177665

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 13330
• ClinVar RCV Id: RCV000014258 ; RCV000033464 ; RCV000077856 ; RCV000156984 ; RCV000626829 ; RCV000824738 ; RCV001270166 ; RCV001376030 ; RCV001813196 ; RCV002490363 ; RCV003147285 ; RCV004532341
• dbSNP Id: rs121918461
• gnomAD v4: 12-112450362-A-G
• COSMIC: COSM14269
• MyVariant Identifiers: chr12:g.112888166A>G (hg19) ; chr12:g.112450362A>G (hg38)
• PubMed: PMID:11704759 ; PMID:12161469 ; PMID:15240615 ; PMID:15273746 ; PMID:15928039 ; PMID:16377799 ; PMID:16461457 ; PMID:16533526 ; PMID:16990350 ; PMID:17020470 ; PMID:18378677 ; PMID:18562489 ; PMID:19008228 ; PMID:19251646 ; PMID:19835954 ; PMID:20651068 ; PMID:21365683 ; PMID:22371576 ; PMID:24628801 ; PMID:24718990 ; PMID:25097206 ; PMID:25383899

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450362A>G , CM000674.2:g.112450362A>G	GRCh38
NC_000012.11:g.112888166A>G , CM000674.1:g.112888166A>G	GRCh37
NC_000012.10:g.111372549A>G	NCBI36
NG_007459.1:g.36631A>G , LRG_614:g.36631A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.182A>G	ENSP00000491593.2:p.Asp61Gly
ENST00000685487.1:c.182A>G	ENSP00000508503.1:p.Asp61Gly
ENST00000687906.1:c.182A>G	ENSP00000509536.1:p.Asp61Gly
ENST00000688597.1:c.182A>G	ENSP00000510628.1:p.Asp61Gly
ENST00000690210.1:c.182A>G	ENSP00000509272.1:p.Asp61Gly
ENST00000692624.1:c.182A>G	ENSP00000508953.1:p.Asp61Gly
ENST00000351677.7:c.182A>G MANE Select	ENSP00000340944.3:p.Asp61Gly
ENST00000639857.1:c.182A>G	ENSP00000491593.1:p.Asp61Gly
ENST00000351677.6:c.182A>G	ENSP00000340944.2:p.Asp61Gly
ENST00000392597.5:c.182A>G	ENSP00000376376.1:p.Asp61Gly
ENST00000635625.1:c.182A>G	ENSP00000489597.1:p.Asp61Gly
NM_002834.3:c.182A>G , LRG_614t1:c.182A>G	NP_002825.3:p.Asp61Gly
NM_080601.1:c.182A>G	NP_542168.1:p.Asp61Gly
XM_006719526.1:c.182A>G	XP_006719589.1:p.Asp61Gly
XM_006719527.1:c.182A>G	XP_006719590.1:p.Asp61Gly
XM_011538613.1:c.179A>G	XP_011536915.1:p.Asp60Gly
NM_001330437.1:c.182A>G	NP_001317366.1:p.Asp61Gly
NM_002834.4:c.182A>G	NP_002825.3:p.Asp61Gly
NM_080601.2:c.182A>G	NP_542168.1:p.Asp61Gly
XM_011538613.2:c.179A>G	XP_011536915.1:p.Asp60Gly
XM_017019722.1:c.179A>G	XP_016875211.1:p.Asp60Gly
NM_001330437.2:c.182A>G	NP_001317366.1:p.Asp61Gly
NM_001374625.1:c.179A>G	NP_001361554.1:p.Asp60Gly
NM_002834.5:c.182A>G MANE Select	NP_002825.3:p.Asp61Gly
NM_080601.3:c.182A>G	NP_542168.1:p.Asp61Gly