Canonical Allele Identifier: CA256758

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 13344
• ClinVar RCV Id: RCV000014272 ; RCV000033554 ; RCV000210036 ; RCV000520822 ; RCV000586289 ; RCV000824752
• dbSNP Id: rs121918470
• MyVariant Identifiers: chr12:g.112926909A>C (hg19) ; chr12:g.112489105A>C (hg38)
• ERepo: CA256758/MONDO:0007893/004
• PubMed: PMID:15520399 ; PMID:15690106 ; PMID:15948193 ; PMID:16358218 ; PMID:16638574 ; PMID:20308328 ; PMID:20578946 ; PMID:22488759

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489105A>C , CM000674.2:g.112489105A>C	GRCh38
NC_000012.11:g.112926909A>C , CM000674.1:g.112926909A>C	GRCh37
NC_000012.10:g.111411292A>C	NCBI36
NG_007459.1:g.75374A>C , LRG_614:g.75374A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1529A>C	ENSP00000491593.2:p.Gln510Pro
ENST00000685487.1:c.1529A>C	ENSP00000508503.1:p.Gln510Pro
ENST00000687624.1:n.194A>C
ENST00000687906.1:c.1415A>C	ENSP00000509536.1:p.Gln472Pro
ENST00000688597.1:c.1224+6900A>C	ENSP00000510628.1:n.1224+6900A>C
ENST00000688701.1:n.773A>C
ENST00000690210.1:c.1529A>C	ENSP00000509272.1:p.Gln510Pro
ENST00000690472.1:n.738A>C
ENST00000692624.1:c.*75A>C	ENSP00000508953.1:n.*75A>C
ENST00000351677.7:c.1529A>C MANE Select	ENSP00000340944.3:p.Gln510Pro
ENST00000351677.6:c.1529A>C	ENSP00000340944.2:p.Gln510Pro
ENST00000635625.1:c.1541A>C	ENSP00000489597.1:p.Gln514Pro
ENST00000635652.1:c.542A>C	ENSP00000489541.1:p.Gln181Pro
NM_002834.3:c.1529A>C , LRG_614t1:c.1529A>C	NP_002825.3:p.Gln510Pro
XM_006719526.1:c.1541A>C	XP_006719589.1:p.Gln514Pro
XM_006719527.1:c.1427A>C	XP_006719590.1:p.Gln476Pro
XM_011538613.1:c.1538A>C	XP_011536915.1:p.Gln513Pro
NM_001330437.1:c.1541A>C	NP_001317366.1:p.Gln514Pro
NM_002834.4:c.1529A>C	NP_002825.3:p.Gln510Pro
XM_011538613.2:c.1538A>C	XP_011536915.1:p.Gln513Pro
XM_017019722.1:c.1526A>C	XP_016875211.1:p.Gln509Pro
NM_001330437.2:c.1541A>C	NP_001317366.1:p.Gln514Pro
NM_001374625.1:c.1526A>C	NP_001361554.1:p.Gln509Pro
NM_002834.5:c.1529A>C MANE Select	NP_002825.3:p.Gln510Pro