Canonical Allele Identifier: CA376549987
Community Standard Title: NM_020975.6(RET):c.1501C>T (p.Leu501Phe)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43111444C>T , CM000672.2:g.43111444C>T GRCh38
NC_000010.10:g.43606892C>T , CM000672.1:g.43606892C>T GRCh37
NC_000010.9:g.42926898C>T NCBI36
NG_007489.1:g.39376C>T , LRG_518:g.39376C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1501C>T MANE Select NP_066124.1:p.Leu501Phe
ENST00000355710.8:c.1501C>T MANE Select ENSP00000347942.3:p.Leu501Phe
NM_001355216.1:c.739C>T NP_001342145.1:p.Leu247Phe
NM_020630.4:c.1501C>T , LRG_518t2:c.1501C>T NP_065681.1:p.Leu501Phe
NM_020630.5:c.1501C>T NP_065681.1:p.Leu501Phe
NM_020630.6:c.1501C>T NP_065681.1:p.Leu501Phe
NM_020975.4:c.1501C>T , LRG_518t1:c.1501C>T NP_066124.1:p.Leu501Phe
NM_020975.5:c.1501C>T NP_066124.1:p.Leu501Phe
ENST00000340058.5:c.1501C>T ENSP00000344798.4:p.Leu501Phe
ENST00000340058.6:c.1501C>T ENSP00000344798.4:p.Leu501Phe
ENST00000355710.7:c.1501C>T ENSP00000347942.3:p.Leu501Phe
ENST00000498820.5:c.74-655C>T ENSP00000419080.1:n.74-655C>T
ENST00000615310.4:c.1289+212C>T ENSP00000480088.1:n.1289+212C>T
ENST00000615310.5:c.1105C>T ENSP00000480088.2:p.Leu369Phe
ENST00000671844.1:c.*95C>T ENSP00000500541.1:n.*95C>T
ENST00000672389.1:c.*95C>T ENSP00000500252.1:n.*95C>T
ENST00000683007.1:n.1075C>T
ENST00000683872.1:n.262C>T
XM_011540027.1:c.1501C>T XP_011538329.1:p.Leu501Phe