Canonical Allele Identifier: CA386779856
Gene: PTPN11 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489087T>A , CM000674.2:g.112489087T>A GRCh38
NC_000012.11:g.112926891T>A , CM000674.1:g.112926891T>A GRCh37
NC_000012.10:g.111411274T>A NCBI36
NG_007459.1:g.75356T>A , LRG_614:g.75356T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1511T>A ENSP00000491593.2:p.Met504Lys
ENST00000685487.1:c.1511T>A ENSP00000508503.1:p.Met504Lys
ENST00000687624.1:n.176T>A
ENST00000687906.1:c.1397T>A ENSP00000509536.1:p.Met466Lys
ENST00000688597.1:c.1224+6882T>A ENSP00000510628.1:n.1224+6882T>A
ENST00000688701.1:n.755T>A
ENST00000690210.1:c.1511T>A ENSP00000509272.1:p.Met504Lys
ENST00000690472.1:n.720T>A
ENST00000692624.1:c.*57T>A ENSP00000508953.1:n.*57T>A
ENST00000351677.7:c.1511T>A MANE Select ENSP00000340944.3:p.Met504Lys
ENST00000351677.6:c.1511T>A ENSP00000340944.2:p.Met504Lys
ENST00000635625.1:c.1523T>A ENSP00000489597.1:p.Met508Lys
ENST00000635652.1:c.524T>A ENSP00000489541.1:p.Met175Lys
NM_002834.3:c.1511T>A , LRG_614t1:c.1511T>A NP_002825.3:p.Met504Lys
XM_006719526.1:c.1523T>A XP_006719589.1:p.Met508Lys
XM_006719527.1:c.1409T>A XP_006719590.1:p.Met470Lys
XM_011538613.1:c.1520T>A XP_011536915.1:p.Met507Lys
NM_001330437.1:c.1523T>A NP_001317366.1:p.Met508Lys
NM_002834.4:c.1511T>A NP_002825.3:p.Met504Lys
XM_011538613.2:c.1520T>A XP_011536915.1:p.Met507Lys
XM_017019722.1:c.1508T>A XP_016875211.1:p.Met503Lys
NM_001330437.2:c.1523T>A NP_001317366.1:p.Met508Lys
NM_001374625.1:c.1508T>A NP_001361554.1:p.Met503Lys
NM_002834.5:c.1511T>A MANE Select NP_002825.3:p.Met504Lys
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