Canonical Allele Identifier: CA386779882

Gene: PTPN11

Linked Data

• dbSNP Id: rs397507548
• MyVariant Identifiers: chr12:g.112926897A>T (hg19) ; chr12:g.112489093A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489093A>T , CM000674.2:g.112489093A>T	GRCh38
NC_000012.11:g.112926897A>T , CM000674.1:g.112926897A>T	GRCh37
NC_000012.10:g.111411280A>T	NCBI36
NG_007459.1:g.75362A>T , LRG_614:g.75362A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1517A>T	ENSP00000491593.2:p.Gln506Leu
ENST00000685487.1:c.1517A>T	ENSP00000508503.1:p.Gln506Leu
ENST00000687624.1:n.182A>T
ENST00000687906.1:c.1403A>T	ENSP00000509536.1:p.Gln468Leu
ENST00000688597.1:c.1224+6888A>T	ENSP00000510628.1:n.1224+6888A>T
ENST00000688701.1:n.761A>T
ENST00000690210.1:c.1517A>T	ENSP00000509272.1:p.Gln506Leu
ENST00000690472.1:n.726A>T
ENST00000692624.1:c.*63A>T	ENSP00000508953.1:n.*63A>T
ENST00000351677.7:c.1517A>T MANE Select	ENSP00000340944.3:p.Gln506Leu
ENST00000351677.6:c.1517A>T	ENSP00000340944.2:p.Gln506Leu
ENST00000635625.1:c.1529A>T	ENSP00000489597.1:p.Gln510Leu
ENST00000635652.1:c.530A>T	ENSP00000489541.1:p.Gln177Leu
NM_002834.3:c.1517A>T , LRG_614t1:c.1517A>T	NP_002825.3:p.Gln506Leu
XM_006719526.1:c.1529A>T	XP_006719589.1:p.Gln510Leu
XM_006719527.1:c.1415A>T	XP_006719590.1:p.Gln472Leu
XM_011538613.1:c.1526A>T	XP_011536915.1:p.Gln509Leu
NM_001330437.1:c.1529A>T	NP_001317366.1:p.Gln510Leu
NM_002834.4:c.1517A>T	NP_002825.3:p.Gln506Leu
XM_011538613.2:c.1526A>T	XP_011536915.1:p.Gln509Leu
XM_017019722.1:c.1514A>T	XP_016875211.1:p.Gln505Leu
NM_001330437.2:c.1529A>T	NP_001317366.1:p.Gln510Leu
NM_001374625.1:c.1514A>T	NP_001361554.1:p.Gln505Leu
NM_002834.5:c.1517A>T MANE Select	NP_002825.3:p.Gln506Leu