Canonical Allele Identifier: CA261549

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40555
• ClinVar RCV Id: RCV000033541 ; RCV000037618 ; RCV000466382 ; RCV001800333 ; RCV002260947 ; RCV004018716
• dbSNP Id: rs397507543
• gnomAD v4: 12-112489078-G-A
• COSMIC: COSM5879379
• MyVariant Identifiers: chr12:g.112926882G>A (hg19) ; chr12:g.112489078G>A (hg38)
• PubMed: PMID:11992261 ; PMID:15928039 ; PMID:16263833 ; PMID:18562489 ; PMID:19795160

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489078G>A , CM000674.2:g.112489078G>A	GRCh38
NC_000012.11:g.112926882G>A , CM000674.1:g.112926882G>A	GRCh37
NC_000012.10:g.111411265G>A	NCBI36
NG_007459.1:g.75347G>A , LRG_614:g.75347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1502G>A	ENSP00000491593.2:p.Arg501Lys
ENST00000685487.1:c.1502G>A	ENSP00000508503.1:p.Arg501Lys
ENST00000687624.1:n.167G>A
ENST00000687906.1:c.1388G>A	ENSP00000509536.1:p.Arg463Lys
ENST00000688597.1:c.1224+6873G>A	ENSP00000510628.1:n.1224+6873G>A
ENST00000688701.1:n.746G>A
ENST00000690210.1:c.1502G>A	ENSP00000509272.1:p.Arg501Lys
ENST00000690472.1:n.711G>A
ENST00000692624.1:c.*48G>A	ENSP00000508953.1:n.*48G>A
ENST00000351677.7:c.1502G>A MANE Select	ENSP00000340944.3:p.Arg501Lys
ENST00000351677.6:c.1502G>A	ENSP00000340944.2:p.Arg501Lys
ENST00000635625.1:c.1514G>A	ENSP00000489597.1:p.Arg505Lys
ENST00000635652.1:c.515G>A	ENSP00000489541.1:p.Arg172Lys
NM_002834.3:c.1502G>A , LRG_614t1:c.1502G>A	NP_002825.3:p.Arg501Lys
XM_006719526.1:c.1514G>A	XP_006719589.1:p.Arg505Lys
XM_006719527.1:c.1400G>A	XP_006719590.1:p.Arg467Lys
XM_011538613.1:c.1511G>A	XP_011536915.1:p.Arg504Lys
NM_001330437.1:c.1514G>A	NP_001317366.1:p.Arg505Lys
NM_002834.4:c.1502G>A	NP_002825.3:p.Arg501Lys
XM_011538613.2:c.1511G>A	XP_011536915.1:p.Arg504Lys
XM_017019722.1:c.1499G>A	XP_016875211.1:p.Arg500Lys
NM_001330437.2:c.1514G>A	NP_001317366.1:p.Arg505Lys
NM_001374625.1:c.1499G>A	NP_001361554.1:p.Arg500Lys
NM_002834.5:c.1502G>A MANE Select	NP_002825.3:p.Arg501Lys