Canonical Allele Identifier: CA386779854
Gene: PTPN11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489086A>C , CM000674.2:g.112489086A>C GRCh38
NC_000012.11:g.112926890A>C , CM000674.1:g.112926890A>C GRCh37
NC_000012.10:g.111411273A>C NCBI36
NG_007459.1:g.75355A>C , LRG_614:g.75355A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1510A>C ENSP00000491593.2:p.Met504Leu
ENST00000685487.1:c.1510A>C ENSP00000508503.1:p.Met504Leu
ENST00000687624.1:n.175A>C
ENST00000687906.1:c.1396A>C ENSP00000509536.1:p.Met466Leu
ENST00000688597.1:c.1224+6881A>C ENSP00000510628.1:n.1224+6881A>C
ENST00000688701.1:n.754A>C
ENST00000690210.1:c.1510A>C ENSP00000509272.1:p.Met504Leu
ENST00000690472.1:n.719A>C
ENST00000692624.1:c.*56A>C ENSP00000508953.1:n.*56A>C
ENST00000351677.7:c.1510A>C MANE Select ENSP00000340944.3:p.Met504Leu
ENST00000351677.6:c.1510A>C ENSP00000340944.2:p.Met504Leu
ENST00000635625.1:c.1522A>C ENSP00000489597.1:p.Met508Leu
ENST00000635652.1:c.523A>C ENSP00000489541.1:p.Met175Leu
NM_002834.3:c.1510A>C , LRG_614t1:c.1510A>C NP_002825.3:p.Met504Leu
XM_006719526.1:c.1522A>C XP_006719589.1:p.Met508Leu
XM_006719527.1:c.1408A>C XP_006719590.1:p.Met470Leu
XM_011538613.1:c.1519A>C XP_011536915.1:p.Met507Leu
NM_001330437.1:c.1522A>C NP_001317366.1:p.Met508Leu
NM_002834.4:c.1510A>C NP_002825.3:p.Met504Leu
XM_011538613.2:c.1519A>C XP_011536915.1:p.Met507Leu
XM_017019722.1:c.1507A>C XP_016875211.1:p.Met503Leu
NM_001330437.2:c.1522A>C NP_001317366.1:p.Met508Leu
NM_001374625.1:c.1507A>C NP_001361554.1:p.Met503Leu
NM_002834.5:c.1510A>C MANE Select NP_002825.3:p.Met504Leu