Canonical Allele Identifier: CA180973

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 40485
• ClinVar RCV Id: RCV000154561 ; RCV000518841 ; RCV000557839 ; RCV000788006 ; RCV000995619 ; RCV003415759
• dbSNP Id: rs397507504
• gnomAD v4: 12-112450346-A-G
• MyVariant Identifiers: chr12:g.112888150A>G (hg19) ; chr12:g.112450346A>G (hg38)
• ERepo: CA180973/MONDO:0021060/004
• PubMed: PMID:19506109 ; PMID:21248739

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450346A>G , CM000674.2:g.112450346A>G	GRCh38
NC_000012.11:g.112888150A>G , CM000674.1:g.112888150A>G	GRCh37
NC_000012.10:g.111372533A>G	NCBI36
NG_007459.1:g.36615A>G , LRG_614:g.36615A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.166A>G	ENSP00000491593.2:p.Ile56Val
ENST00000685487.1:c.166A>G	ENSP00000508503.1:p.Ile56Val
ENST00000687906.1:c.166A>G	ENSP00000509536.1:p.Ile56Val
ENST00000688597.1:c.166A>G	ENSP00000510628.1:p.Ile56Val
ENST00000690210.1:c.166A>G	ENSP00000509272.1:p.Ile56Val
ENST00000692624.1:c.166A>G	ENSP00000508953.1:p.Ile56Val
ENST00000351677.7:c.166A>G MANE Select	ENSP00000340944.3:p.Ile56Val
ENST00000639857.1:c.166A>G	ENSP00000491593.1:p.Ile56Val
ENST00000351677.6:c.166A>G	ENSP00000340944.2:p.Ile56Val
ENST00000392597.5:c.166A>G	ENSP00000376376.1:p.Ile56Val
ENST00000635625.1:c.166A>G	ENSP00000489597.1:p.Ile56Val
NM_002834.3:c.166A>G , LRG_614t1:c.166A>G	NP_002825.3:p.Ile56Val
NM_080601.1:c.166A>G	NP_542168.1:p.Ile56Val
XM_006719526.1:c.166A>G	XP_006719589.1:p.Ile56Val
XM_006719527.1:c.166A>G	XP_006719590.1:p.Ile56Val
XM_011538613.1:c.163A>G	XP_011536915.1:p.Ile55Val
NM_001330437.1:c.166A>G	NP_001317366.1:p.Ile56Val
NM_002834.4:c.166A>G	NP_002825.3:p.Ile56Val
NM_080601.2:c.166A>G	NP_542168.1:p.Ile56Val
XM_011538613.2:c.163A>G	XP_011536915.1:p.Ile55Val
XM_017019722.1:c.163A>G	XP_016875211.1:p.Ile55Val
NM_001330437.2:c.166A>G	NP_001317366.1:p.Ile56Val
NM_001374625.1:c.163A>G	NP_001361554.1:p.Ile55Val
NM_002834.5:c.166A>G MANE Select	NP_002825.3:p.Ile56Val
NM_080601.3:c.166A>G	NP_542168.1:p.Ile56Val