Canonical Allele Identifier: CA683698112
Community Standard Title: NM_002834.5(PTPN11):c.*2179C>T
Gene: PTPN11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112507971C>T , CM000674.2:g.112507971C>T GRCh38
NC_000012.11:g.112945775C>T , CM000674.1:g.112945775C>T GRCh37
NC_000012.10:g.111430158C>T NCBI36
NG_007459.1:g.94240C>T , LRG_614:g.94240C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002834.5:c.*2179C>T MANE Select NP_002825.3:n.*2179C>T
ENST00000351677.7:c.*2179C>T MANE Select ENSP00000340944.3:n.*2179C>T
NM_001330437.1:c.*2179C>T NP_001317366.1:n.*2179C>T
NM_001330437.2:c.*2179C>T NP_001317366.1:n.*2179C>T
NM_001374625.1:c.*2179C>T NP_001361554.1:n.*2179C>T
NM_002834.3:c.*2179C>T , LRG_614t1:c.*2179C>T NP_002825.3:n.*2179C>T
NM_002834.4:c.*2179C>T NP_002825.3:n.*2179C>T
ENST00000351677.6:c.*2179C>T ENSP00000340944.2:n.*2179C>T
ENST00000639857.2:c.*2122C>T ENSP00000491593.2:n.*2122C>T
ENST00000685487.1:c.*3163C>T ENSP00000508503.1:n.*3163C>T
ENST00000687120.1:n.5782C>T
ENST00000687906.1:c.*2179C>T ENSP00000509536.1:n.*2179C>T
ENST00000688597.1:c.*2179C>T ENSP00000510628.1:n.*2179C>T
ENST00000688701.1:n.3205C>T
ENST00000690210.1:c.*2179C>T ENSP00000509272.1:n.*2179C>T
ENST00000690472.1:n.3170C>T
ENST00000692624.1:c.*2507C>T ENSP00000508953.1:n.*2507C>T
XM_006719526.1:c.*2179C>T XP_006719589.1:n.*2179C>T
XM_006719527.1:c.*2179C>T XP_006719590.1:n.*2179C>T
XM_011538613.1:c.*2179C>T XP_011536915.1:n.*2179C>T
XM_011538613.2:c.*2179C>T XP_011536915.1:n.*2179C>T
XM_017019722.1:c.*2179C>T XP_016875211.1:n.*2179C>T