Canonical Allele Identifier: CA386776883
Gene: PTPN11 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112486476G>A , CM000674.2:g.112486476G>A GRCh38
NC_000012.11:g.112924280G>A , CM000674.1:g.112924280G>A GRCh37
NC_000012.10:g.111408663G>A NCBI36
NG_007459.1:g.72745G>A , LRG_614:g.72745G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1226G>A ENSP00000491593.2:p.Gly409Glu
ENST00000685487.1:c.1226G>A ENSP00000508503.1:p.Gly409Glu
ENST00000687906.1:c.1112G>A ENSP00000509536.1:p.Gly371Glu
ENST00000688597.1:c.1224+4271G>A ENSP00000510628.1:n.1224+4271G>A
ENST00000690210.1:c.1226G>A ENSP00000509272.1:p.Gly409Glu
ENST00000690472.1:n.435G>A
ENST00000692624.1:c.1226G>A ENSP00000508953.1:p.Gly409Glu
ENST00000351677.7:c.1226G>A MANE Select ENSP00000340944.3:p.Gly409Glu
ENST00000351677.6:c.1226G>A ENSP00000340944.2:p.Gly409Glu
ENST00000392597.5:c.1226G>A ENSP00000376376.1:p.Gly409Glu
ENST00000635625.1:c.1238G>A ENSP00000489597.1:p.Gly413Glu
ENST00000635652.1:c.239G>A ENSP00000489541.1:p.Gly80Glu
NM_002834.3:c.1226G>A , LRG_614t1:c.1226G>A NP_002825.3:p.Gly409Glu
NM_080601.1:c.1226G>A NP_542168.1:p.Gly409Glu
XM_006719526.1:c.1238G>A XP_006719589.1:p.Gly413Glu
XM_006719527.1:c.1124G>A XP_006719590.1:p.Gly375Glu
XM_011538613.1:c.1235G>A XP_011536915.1:p.Gly412Glu
NM_001330437.1:c.1238G>A NP_001317366.1:p.Gly413Glu
NM_002834.4:c.1226G>A NP_002825.3:p.Gly409Glu
NM_080601.2:c.1226G>A NP_542168.1:p.Gly409Glu
XM_011538613.2:c.1235G>A XP_011536915.1:p.Gly412Glu
XM_017019722.1:c.1223G>A XP_016875211.1:p.Gly408Glu
NM_001330437.2:c.1238G>A NP_001317366.1:p.Gly413Glu
NM_001374625.1:c.1223G>A NP_001361554.1:p.Gly408Glu
NM_002834.5:c.1226G>A MANE Select NP_002825.3:p.Gly409Glu
NM_080601.3:c.1226G>A NP_542168.1:p.Gly409Glu