Canonical Allele Identifier: CA386779936

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 1901747
• ClinVar RCV Id: RCV002577202
• dbSNP Id: rs2135916511
• COSMIC: COSM5991632
• MyVariant Identifiers: chr12:g.112926914C>T (hg19) ; chr12:g.112489110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489110C>T , CM000674.2:g.112489110C>T	GRCh38
NC_000012.11:g.112926914C>T , CM000674.1:g.112926914C>T	GRCh37
NC_000012.10:g.111411297C>T	NCBI36
NG_007459.1:g.75379C>T , LRG_614:g.75379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1534C>T	ENSP00000491593.2:p.Arg512Ter
ENST00000685487.1:c.1534C>T	ENSP00000508503.1:p.Arg512Ter
ENST00000687624.1:n.199C>T
ENST00000687906.1:c.1420C>T	ENSP00000509536.1:p.Arg474Ter
ENST00000688597.1:c.1224+6905C>T	ENSP00000510628.1:n.1224+6905C>T
ENST00000688701.1:n.778C>T
ENST00000690210.1:c.1534C>T	ENSP00000509272.1:p.Arg512Ter
ENST00000690472.1:n.743C>T
ENST00000692624.1:c.*80C>T	ENSP00000508953.1:n.*80C>T
ENST00000351677.7:c.1534C>T MANE Select	ENSP00000340944.3:p.Arg512Ter
ENST00000351677.6:c.1534C>T	ENSP00000340944.2:p.Arg512Ter
ENST00000635625.1:c.1546C>T	ENSP00000489597.1:p.Arg516Ter
ENST00000635652.1:c.547C>T	ENSP00000489541.1:p.Arg183Ter
NM_002834.3:c.1534C>T , LRG_614t1:c.1534C>T	NP_002825.3:p.Arg512Ter
XM_006719526.1:c.1546C>T	XP_006719589.1:p.Arg516Ter
XM_006719527.1:c.1432C>T	XP_006719590.1:p.Arg478Ter
XM_011538613.1:c.1543C>T	XP_011536915.1:p.Arg515Ter
NM_001330437.1:c.1546C>T	NP_001317366.1:p.Arg516Ter
NM_002834.4:c.1534C>T	NP_002825.3:p.Arg512Ter
XM_011538613.2:c.1543C>T	XP_011536915.1:p.Arg515Ter
XM_017019722.1:c.1531C>T	XP_016875211.1:p.Arg511Ter
NM_001330437.2:c.1546C>T	NP_001317366.1:p.Arg516Ter
NM_001374625.1:c.1531C>T	NP_001361554.1:p.Arg511Ter
NM_002834.5:c.1534C>T MANE Select	NP_002825.3:p.Arg512Ter