Canonical Allele Identifier: CA376553027
Community Standard Title: NM_020975.6(RET):c.1965C>A (p.Phe655Leu)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43114565C>A , CM000672.2:g.43114565C>A GRCh38
NC_000010.10:g.43610013C>A , CM000672.1:g.43610013C>A GRCh37
NC_000010.9:g.42930019C>A NCBI36
NG_007489.1:g.42497C>A , LRG_518:g.42497C>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1965C>A MANE Select NP_066124.1:p.Phe655Leu
ENST00000355710.8:c.1965C>A MANE Select ENSP00000347942.3:p.Phe655Leu
NM_001355216.1:c.1203C>A NP_001342145.1:p.Phe401Leu
NM_020630.4:c.1965C>A , LRG_518t2:c.1965C>A NP_065681.1:p.Phe655Leu
NM_020630.5:c.1965C>A NP_065681.1:p.Phe655Leu
NM_020630.6:c.1965C>A NP_065681.1:p.Phe655Leu
NM_020975.4:c.1965C>A , LRG_518t1:c.1965C>A NP_066124.1:p.Phe655Leu
NM_020975.5:c.1965C>A NP_066124.1:p.Phe655Leu
ENST00000340058.5:c.1965C>A ENSP00000344798.4:p.Phe655Leu
ENST00000340058.6:c.1965C>A ENSP00000344798.4:p.Phe655Leu
ENST00000355710.7:c.1965C>A ENSP00000347942.3:p.Phe655Leu
ENST00000498820.5:c.516C>A ENSP00000419080.1:p.Phe172Leu
ENST00000615310.4:c.1289+3333C>A ENSP00000480088.1:n.1289+3333C>A
ENST00000615310.5:c.1569C>A ENSP00000480088.2:p.Phe523Leu
ENST00000671844.1:c.*559C>A ENSP00000500541.1:n.*559C>A
ENST00000672389.1:c.*559C>A ENSP00000500252.1:n.*559C>A
ENST00000683007.1:n.1539C>A
ENST00000683872.1:n.1530C>A
XM_011540027.1:c.1965C>A XP_011538329.1:p.Phe655Leu