Canonical Allele Identifier: CA2063740136
Community Standard Title: NM_002834.5(PTPN11):c.1391G= (p.Gly464=)
Gene: PTPN11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112488454G= , CM000674.2:g.112488454G= GRCh38
NC_000012.11:g.112926258G= , CM000674.1:g.112926258G= GRCh37
NC_000012.10:g.111410641G= NCBI36
NG_007459.1:g.74723G= , LRG_614:g.74723G=

Transcript Alleles

HGVS Amino-acid Change
NM_002834.5:c.1391G= MANE Select NP_002825.3:p.Gly464=
ENST00000351677.7:c.1391G= MANE Select ENSP00000340944.3:p.Gly464=
NM_001330437.1:c.1403G= NP_001317366.1:p.Gly468=
NM_001330437.2:c.1403G= NP_001317366.1:p.Gly468=
NM_001374625.1:c.1388G= NP_001361554.1:p.Gly463=
NM_002834.3:c.1391G= , LRG_614t1:c.1391G= NP_002825.3:p.Gly464=
NM_002834.4:c.1391G= NP_002825.3:p.Gly464=
ENST00000351677.6:c.1391G= ENSP00000340944.2:p.Gly464=
ENST00000635625.1:c.1403G= ENSP00000489597.1:p.Gly468=
ENST00000635652.1:c.404G= ENSP00000489541.1:p.Gly135=
ENST00000639857.2:c.1391G= ENSP00000491593.2:p.Gly464=
ENST00000685487.1:c.1391G= ENSP00000508503.1:p.Gly464=
ENST00000687624.1:n.56G=
ENST00000687906.1:c.1277G= ENSP00000509536.1:p.Gly426=
ENST00000688597.1:c.1224+6249G= ENSP00000510628.1:n.1224+6249G=
ENST00000688701.1:n.635G=
ENST00000690210.1:c.1391G= ENSP00000509272.1:p.Gly464=
ENST00000690472.1:n.600G=
ENST00000692624.1:c.1380-570G= ENSP00000508953.1:n.1380-570G=
XM_006719526.1:c.1403G= XP_006719589.1:p.Gly468=
XM_006719527.1:c.1289G= XP_006719590.1:p.Gly430=
XM_011538613.1:c.1400G= XP_011536915.1:p.Gly467=
XM_011538613.2:c.1400G= XP_011536915.1:p.Gly467=
XM_017019722.1:c.1388G= XP_016875211.1:p.Gly463=