Canonical Allele Identifier: CA386779805

Gene: PTPN11

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489069G>A , CM000674.2:g.112489069G>A	GRCh38
NC_000012.11:g.112926873G>A , CM000674.1:g.112926873G>A	GRCh37
NC_000012.10:g.111411256G>A	NCBI36
NG_007459.1:g.75338G>A , LRG_614:g.75338G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002834.5:c.1493G>A MANE Select	NP_002825.3:p.Arg498Gln
ENST00000351677.7:c.1493G>A MANE Select	ENSP00000340944.3:p.Arg498Gln
NM_001330437.1:c.1505G>A	NP_001317366.1:p.Arg502Gln
NM_001330437.2:c.1505G>A	NP_001317366.1:p.Arg502Gln
NM_001374625.1:c.1490G>A	NP_001361554.1:p.Arg497Gln
NM_002834.3:c.1493G>A , LRG_614t1:c.1493G>A	NP_002825.3:p.Arg498Gln
NM_002834.4:c.1493G>A	NP_002825.3:p.Arg498Gln
ENST00000351677.6:c.1493G>A	ENSP00000340944.2:p.Arg498Gln
ENST00000635625.1:c.1505G>A	ENSP00000489597.1:p.Arg502Gln
ENST00000635652.1:c.506G>A	ENSP00000489541.1:p.Arg169Gln
ENST00000639857.2:c.1493G>A	ENSP00000491593.2:p.Arg498Gln
ENST00000685487.1:c.1493G>A	ENSP00000508503.1:p.Arg498Gln
ENST00000687624.1:n.158G>A
ENST00000687906.1:c.1379G>A	ENSP00000509536.1:p.Arg460Gln
ENST00000688597.1:c.1224+6864G>A	ENSP00000510628.1:n.1224+6864G>A
ENST00000688701.1:n.737G>A
ENST00000690210.1:c.1493G>A	ENSP00000509272.1:p.Arg498Gln
ENST00000690472.1:n.702G>A
ENST00000692624.1:c.*39G>A	ENSP00000508953.1:n.*39G>A
XM_006719526.1:c.1505G>A	XP_006719589.1:p.Arg502Gln
XM_006719527.1:c.1391G>A	XP_006719590.1:p.Arg464Gln
XM_011538613.1:c.1502G>A	XP_011536915.1:p.Arg501Gln
XM_011538613.2:c.1502G>A	XP_011536915.1:p.Arg501Gln
XM_017019722.1:c.1490G>A	XP_016875211.1:p.Arg497Gln