Canonical Allele Identifier: CA261577

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40503
• ClinVar RCV Id: RCV000037638 ; RCV000033479 ; RCV000856760 ; RCV000472904 ; RCV002453282
• dbSNP Id: rs397507514
• gnomAD v4: 12-112450408-G-C
• MyVariant Identifiers: chr12:g.112888212G>C (hg19) ; chr12:g.112450408G>C (hg38)
• PubMed: PMID:11704759 ; PMID:15928039 ; PMID:16358218

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450408G>C , CM000674.2:g.112450408G>C	GRCh38
NC_000012.11:g.112888212G>C , CM000674.1:g.112888212G>C	GRCh37
NC_000012.10:g.111372595G>C	NCBI36
NG_007459.1:g.36677G>C , LRG_614:g.36677G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.228G>C	ENSP00000491593.2:p.Glu76Asp
ENST00000685487.1:c.228G>C	ENSP00000508503.1:p.Glu76Asp
ENST00000687906.1:c.228G>C	ENSP00000509536.1:p.Glu76Asp
ENST00000688597.1:c.228G>C	ENSP00000510628.1:p.Glu76Asp
ENST00000690210.1:c.228G>C	ENSP00000509272.1:p.Glu76Asp
ENST00000692624.1:c.228G>C	ENSP00000508953.1:p.Glu76Asp
ENST00000351677.7:c.228G>C MANE Select	ENSP00000340944.3:p.Glu76Asp
ENST00000639857.1:c.228G>C	ENSP00000491593.1:p.Glu76Asp
ENST00000351677.6:c.228G>C	ENSP00000340944.2:p.Glu76Asp
ENST00000392597.5:c.228G>C	ENSP00000376376.1:p.Glu76Asp
ENST00000635625.1:c.228G>C	ENSP00000489597.1:p.Glu76Asp
NM_002834.3:c.228G>C , LRG_614t1:c.228G>C	NP_002825.3:p.Glu76Asp
NM_080601.1:c.228G>C	NP_542168.1:p.Glu76Asp
XM_006719526.1:c.228G>C	XP_006719589.1:p.Glu76Asp
XM_006719527.1:c.228G>C	XP_006719590.1:p.Glu76Asp
XM_011538613.1:c.225G>C	XP_011536915.1:p.Glu75Asp
NM_001330437.1:c.228G>C	NP_001317366.1:p.Glu76Asp
NM_002834.4:c.228G>C	NP_002825.3:p.Glu76Asp
NM_080601.2:c.228G>C	NP_542168.1:p.Glu76Asp
XM_011538613.2:c.225G>C	XP_011536915.1:p.Glu75Asp
XM_017019722.1:c.225G>C	XP_016875211.1:p.Glu75Asp
NM_001330437.2:c.228G>C	NP_001317366.1:p.Glu76Asp
NM_001374625.1:c.225G>C	NP_001361554.1:p.Glu75Asp
NM_002834.5:c.228G>C MANE Select	NP_002825.3:p.Glu76Asp
NM_080601.3:c.228G>C	NP_542168.1:p.Glu76Asp