Canonical Allele Identifier: CA376551792
Community Standard Title: NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43112868T>G , CM000672.2:g.43112868T>G GRCh38
NC_000010.10:g.43608316T>G , CM000672.1:g.43608316T>G GRCh37
NC_000010.9:g.42928322T>G NCBI36
NG_007489.1:g.40800T>G , LRG_518:g.40800T>G

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1664T>G MANE Select NP_066124.1:p.Phe555Cys
ENST00000355710.8:c.1664T>G MANE Select ENSP00000347942.3:p.Phe555Cys
NM_001355216.1:c.902T>G NP_001342145.1:p.Phe301Cys
NM_020630.4:c.1664T>G , LRG_518t2:c.1664T>G NP_065681.1:p.Phe555Cys
NM_020630.5:c.1664T>G NP_065681.1:p.Phe555Cys
NM_020630.6:c.1664T>G NP_065681.1:p.Phe555Cys
NM_020975.4:c.1664T>G , LRG_518t1:c.1664T>G NP_066124.1:p.Phe555Cys
NM_020975.5:c.1664T>G NP_066124.1:p.Phe555Cys
ENST00000340058.5:c.1664T>G ENSP00000344798.4:p.Phe555Cys
ENST00000340058.6:c.1664T>G ENSP00000344798.4:p.Phe555Cys
ENST00000355710.7:c.1664T>G ENSP00000347942.3:p.Phe555Cys
ENST00000498820.5:c.215T>G ENSP00000419080.1:p.Phe72Cys
ENST00000615310.4:c.1289+1636T>G ENSP00000480088.1:n.1289+1636T>G
ENST00000615310.5:c.1268T>G ENSP00000480088.2:p.Phe423Cys
ENST00000671844.1:c.*258T>G ENSP00000500541.1:n.*258T>G
ENST00000672389.1:c.*258T>G ENSP00000500252.1:n.*258T>G
ENST00000683007.1:n.1238T>G
ENST00000683872.1:n.425T>G
XM_011540027.1:c.1664T>G XP_011538329.1:p.Phe555Cys