Canonical Allele Identifier: CA2063741145
Gene: PTPN11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489122A= , CM000674.2:g.112489122A= GRCh38
NC_000012.11:g.112926926A= , CM000674.1:g.112926926A= GRCh37
NC_000012.10:g.111411309A= NCBI36
NG_007459.1:g.75391A= , LRG_614:g.75391A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1546A= ENSP00000491593.2:p.Met516=
ENST00000685487.1:c.1546A= ENSP00000508503.1:p.Met516=
ENST00000687624.1:n.211A=
ENST00000687906.1:c.1432A= ENSP00000509536.1:p.Met478=
ENST00000688597.1:c.1224+6917A= ENSP00000510628.1:n.1224+6917A=
ENST00000688701.1:n.790A=
ENST00000690210.1:c.1546A= ENSP00000509272.1:p.Met516=
ENST00000690472.1:n.755A=
ENST00000692624.1:c.*92A= ENSP00000508953.1:n.*92A=
ENST00000351677.7:c.1546A= MANE Select ENSP00000340944.3:p.Met516=
ENST00000351677.6:c.1546A= ENSP00000340944.2:p.Met516=
ENST00000635625.1:c.1558A= ENSP00000489597.1:p.Met520=
ENST00000635652.1:c.559A= ENSP00000489541.1:p.Met187=
NM_002834.3:c.1546A= , LRG_614t1:c.1546A= NP_002825.3:p.Met516=
XM_006719526.1:c.1558A= XP_006719589.1:p.Met520=
XM_006719527.1:c.1444A= XP_006719590.1:p.Met482=
XM_011538613.1:c.1555A= XP_011536915.1:p.Met519=
NM_001330437.1:c.1558A= NP_001317366.1:p.Met520=
NM_002834.4:c.1546A= NP_002825.3:p.Met516=
XM_011538613.2:c.1555A= XP_011536915.1:p.Met519=
XM_017019722.1:c.1543A= XP_016875211.1:p.Met515=
NM_001330437.2:c.1558A= NP_001317366.1:p.Met520=
NM_001374625.1:c.1543A= NP_001361554.1:p.Met515=
NM_002834.5:c.1546A= MANE Select NP_002825.3:p.Met516=