Canonical Allele Identifier: CA134641
Community Standard Title: NM_002834.5(PTPN11):c.1449T>G (p.Gly483=)
Gene: PTPN11 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489025T>G , CM000674.2:g.112489025T>G GRCh38
NC_000012.11:g.112926829T>G , CM000674.1:g.112926829T>G GRCh37
NC_000012.10:g.111411212T>G NCBI36
NG_007459.1:g.75294T>G , LRG_614:g.75294T>G

Transcript Alleles

HGVS Amino-acid Change
NM_002834.5:c.1449T>G MANE Select NP_002825.3:p.Gly483=
ENST00000351677.7:c.1449T>G MANE Select ENSP00000340944.3:p.Gly483=
NM_001330437.1:c.1461T>G NP_001317366.1:p.Gly487=
NM_001330437.2:c.1461T>G NP_001317366.1:p.Gly487=
NM_001374625.1:c.1446T>G NP_001361554.1:p.Gly482=
NM_002834.3:c.1449T>G , LRG_614t1:c.1449T>G NP_002825.3:p.Gly483=
NM_002834.4:c.1449T>G NP_002825.3:p.Gly483=
ENST00000351677.6:c.1449T>G ENSP00000340944.2:p.Gly483=
ENST00000635625.1:c.1461T>G ENSP00000489597.1:p.Gly487=
ENST00000635652.1:c.462T>G ENSP00000489541.1:p.Gly154=
ENST00000639857.2:c.1449T>G ENSP00000491593.2:p.Gly483=
ENST00000685487.1:c.1449T>G ENSP00000508503.1:p.Gly483=
ENST00000687624.1:n.114T>G
ENST00000687906.1:c.1335T>G ENSP00000509536.1:p.Gly445=
ENST00000688597.1:c.1224+6820T>G ENSP00000510628.1:n.1224+6820T>G
ENST00000688701.1:n.693T>G
ENST00000690210.1:c.1449T>G ENSP00000509272.1:p.Gly483=
ENST00000690472.1:n.658T>G
ENST00000692624.1:c.1381T>G ENSP00000508953.1:p.Cys461Gly
XM_006719526.1:c.1461T>G XP_006719589.1:p.Gly487=
XM_006719527.1:c.1347T>G XP_006719590.1:p.Gly449=
XM_011538613.1:c.1458T>G XP_011536915.1:p.Gly486=
XM_011538613.2:c.1458T>G XP_011536915.1:p.Gly486=
XM_017019722.1:c.1446T>G XP_016875211.1:p.Gly482=
Search 100 bp 5'
Search 100 bp 3'