Canonical Allele Identifier: CA134647
Community Standard Title: NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
Gene: PTPN11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112502222C>T , CM000674.2:g.112502222C>T GRCh38
NC_000012.11:g.112940026C>T , CM000674.1:g.112940026C>T GRCh37
NC_000012.10:g.111424409C>T NCBI36
NG_007459.1:g.88491C>T , LRG_614:g.88491C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002834.5:c.1678C>T MANE Select NP_002825.3:p.Leu560Phe
ENST00000351677.7:c.1678C>T MANE Select ENSP00000340944.3:p.Leu560Phe
NM_001330437.1:c.1690C>T NP_001317366.1:p.Leu564Phe
NM_001330437.2:c.1690C>T NP_001317366.1:p.Leu564Phe
NM_001374625.1:c.1675C>T NP_001361554.1:p.Leu559Phe
NM_002834.3:c.1678C>T , LRG_614t1:c.1678C>T NP_002825.3:p.Leu560Phe
NM_002834.4:c.1678C>T NP_002825.3:p.Leu560Phe
ENST00000351677.6:c.1678C>T ENSP00000340944.2:p.Leu560Phe
ENST00000635625.1:c.1690C>T ENSP00000489597.1:p.Leu564Phe
ENST00000639857.2:c.1678C>T ENSP00000491593.2:p.Leu560Phe
ENST00000685487.1:c.*880C>T ENSP00000508503.1:n.*880C>T
ENST00000687120.1:n.1061C>T
ENST00000687906.1:c.1564C>T ENSP00000509536.1:p.Leu522Phe
ENST00000688597.1:c.1303C>T ENSP00000510628.1:p.Leu435Phe
ENST00000688701.1:n.922C>T
ENST00000690210.1:c.1678C>T ENSP00000509272.1:p.Leu560Phe
ENST00000690472.1:n.887C>T
ENST00000692624.1:c.*224C>T ENSP00000508953.1:n.*224C>T
XM_006719526.1:c.1690C>T XP_006719589.1:p.Leu564Phe
XM_006719527.1:c.1576C>T XP_006719590.1:p.Leu526Phe
XM_011538613.1:c.1687C>T XP_011536915.1:p.Leu563Phe
XM_011538613.2:c.1687C>T XP_011536915.1:p.Leu563Phe
XM_017019722.1:c.1675C>T XP_016875211.1:p.Leu559Phe