Canonical Allele Identifier: CA235316

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40495
• ClinVar RCV Id: RCV000033463 ; RCV000157678 ; RCV000576434 ; RCV000599619 ; RCV001813245 ; RCV001775072 ; RCV002408496 ; RCV003224113 ; RCV003147304 ; RCV003147305 ; RCV004532485
• dbSNP Id: rs397507510
• gnomAD v4: 12-112450361-G-A
• COSMIC: COSM13012
• MyVariant Identifiers: chr12:g.112888165G>A (hg19) ; chr12:g.112450361G>A (hg38)
• PubMed: PMID:11992261 ; PMID:14644997 ; PMID:15834506 ; PMID:15842656 ; PMID:15928039 ; PMID:15956085 ; PMID:16358218 ; PMID:16804314 ; PMID:17227708 ; PMID:18678287 ; PMID:20186801 ; PMID:20931536 ; PMID:20954246 ; PMID:21744363 ; PMID:22465605 ; PMID:23756559 ; PMID:23832011 ; PMID:25097206

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450361G>A , CM000674.2:g.112450361G>A	GRCh38
NC_000012.11:g.112888165G>A , CM000674.1:g.112888165G>A	GRCh37
NC_000012.10:g.111372548G>A	NCBI36
NG_007459.1:g.36630G>A , LRG_614:g.36630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.181G>A	ENSP00000491593.2:p.Asp61Asn
ENST00000685487.1:c.181G>A	ENSP00000508503.1:p.Asp61Asn
ENST00000687906.1:c.181G>A	ENSP00000509536.1:p.Asp61Asn
ENST00000688597.1:c.181G>A	ENSP00000510628.1:p.Asp61Asn
ENST00000690210.1:c.181G>A	ENSP00000509272.1:p.Asp61Asn
ENST00000692624.1:c.181G>A	ENSP00000508953.1:p.Asp61Asn
ENST00000351677.7:c.181G>A MANE Select	ENSP00000340944.3:p.Asp61Asn
ENST00000639857.1:c.181G>A	ENSP00000491593.1:p.Asp61Asn
ENST00000351677.6:c.181G>A	ENSP00000340944.2:p.Asp61Asn
ENST00000392597.5:c.181G>A	ENSP00000376376.1:p.Asp61Asn
ENST00000635625.1:c.181G>A	ENSP00000489597.1:p.Asp61Asn
NM_002834.3:c.181G>A , LRG_614t1:c.181G>A	NP_002825.3:p.Asp61Asn
NM_080601.1:c.181G>A	NP_542168.1:p.Asp61Asn
XM_006719526.1:c.181G>A	XP_006719589.1:p.Asp61Asn
XM_006719527.1:c.181G>A	XP_006719590.1:p.Asp61Asn
XM_011538613.1:c.178G>A	XP_011536915.1:p.Asp60Asn
NM_001330437.1:c.181G>A	NP_001317366.1:p.Asp61Asn
NM_002834.4:c.181G>A	NP_002825.3:p.Asp61Asn
NM_080601.2:c.181G>A	NP_542168.1:p.Asp61Asn
XM_011538613.2:c.178G>A	XP_011536915.1:p.Asp60Asn
XM_017019722.1:c.178G>A	XP_016875211.1:p.Asp60Asn
NM_001330437.2:c.181G>A	NP_001317366.1:p.Asp61Asn
NM_001374625.1:c.178G>A	NP_001361554.1:p.Asp60Asn
NM_002834.5:c.181G>A MANE Select	NP_002825.3:p.Asp61Asn
NM_080601.3:c.181G>A	NP_542168.1:p.Asp61Asn