Canonical Allele Identifier: CA386779920

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 981537
• ClinVar RCV Id: RCV001261023 ; RCV001813585
• dbSNP Id: rs121918470
• COSMIC: COSM1318059
• MyVariant Identifiers: chr12:g.112926909A>T (hg19) ; chr12:g.112489105A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1529A>T	ENSP00000491593.2:p.Gln510Leu
ENST00000685487.1:c.1529A>T	ENSP00000508503.1:p.Gln510Leu
ENST00000687624.1:n.194A>T
ENST00000687906.1:c.1415A>T	ENSP00000509536.1:p.Gln472Leu
ENST00000688597.1:c.1224+6900A>T	ENSP00000510628.1:n.1224+6900A>T
ENST00000688701.1:n.773A>T
ENST00000690210.1:c.1529A>T	ENSP00000509272.1:p.Gln510Leu
ENST00000690472.1:n.738A>T
ENST00000692624.1:c.*75A>T	ENSP00000508953.1:n.*75A>T
ENST00000351677.7:c.1529A>T MANE Select	ENSP00000340944.3:p.Gln510Leu
ENST00000351677.6:c.1529A>T	ENSP00000340944.2:p.Gln510Leu
ENST00000635625.1:c.1541A>T	ENSP00000489597.1:p.Gln514Leu
ENST00000635652.1:c.542A>T	ENSP00000489541.1:p.Gln181Leu
NM_002834.3:c.1529A>T , LRG_614t1:c.1529A>T	NP_002825.3:p.Gln510Leu
XM_006719526.1:c.1541A>T	XP_006719589.1:p.Gln514Leu
XM_006719527.1:c.1427A>T	XP_006719590.1:p.Gln476Leu
XM_011538613.1:c.1538A>T	XP_011536915.1:p.Gln513Leu
NM_001330437.1:c.1541A>T	NP_001317366.1:p.Gln514Leu
NM_002834.4:c.1529A>T	NP_002825.3:p.Gln510Leu
XM_011538613.2:c.1538A>T	XP_011536915.1:p.Gln513Leu
XM_017019722.1:c.1526A>T	XP_016875211.1:p.Gln509Leu
NM_001330437.2:c.1541A>T	NP_001317366.1:p.Gln514Leu
NM_001374625.1:c.1526A>T	NP_001361554.1:p.Gln509Leu
NM_002834.5:c.1529A>T MANE Select	NP_002825.3:p.Gln510Leu