Canonical Allele Identifier: CA376552233

Gene: RET

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43112957T>C , CM000672.2:g.43112957T>C	GRCh38
NC_000010.10:g.43608405T>C , CM000672.1:g.43608405T>C	GRCh37
NC_000010.9:g.42928411T>C	NCBI36
NG_007489.1:g.40889T>C , LRG_518:g.40889T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020975.6:c.1753T>C MANE Select	NP_066124.1:p.Cys585Arg
ENST00000355710.8:c.1753T>C MANE Select	ENSP00000347942.3:p.Cys585Arg
NM_001355216.1:c.991T>C	NP_001342145.1:p.Cys331Arg
NM_020630.4:c.1753T>C , LRG_518t2:c.1753T>C	NP_065681.1:p.Cys585Arg
NM_020630.5:c.1753T>C	NP_065681.1:p.Cys585Arg
NM_020630.6:c.1753T>C	NP_065681.1:p.Cys585Arg
NM_020975.4:c.1753T>C , LRG_518t1:c.1753T>C	NP_066124.1:p.Cys585Arg
NM_020975.5:c.1753T>C	NP_066124.1:p.Cys585Arg
ENST00000340058.5:c.1753T>C	ENSP00000344798.4:p.Cys585Arg
ENST00000340058.6:c.1753T>C	ENSP00000344798.4:p.Cys585Arg
ENST00000355710.7:c.1753T>C	ENSP00000347942.3:p.Cys585Arg
ENST00000498820.5:c.304T>C	ENSP00000419080.1:p.Cys102Arg
ENST00000615310.4:c.1289+1725T>C	ENSP00000480088.1:n.1289+1725T>C
ENST00000615310.5:c.1357T>C	ENSP00000480088.2:p.Cys453Arg
ENST00000671844.1:c.*347T>C	ENSP00000500541.1:n.*347T>C
ENST00000672389.1:c.*347T>C	ENSP00000500252.1:n.*347T>C
ENST00000683007.1:n.1327T>C
ENST00000683872.1:n.514T>C
XM_011540027.1:c.1753T>C	XP_011538329.1:p.Cys585Arg