Canonical Allele Identifier: CA008047

Gene: RET

Linked Data

• ClinVar Variation Id: 38602
• ClinVar RCV Id: RCV000021798 ; RCV002408487
• dbSNP Id: rs77316810
• COSMIC: COSM5946160
• MyVariant Identifiers: chr10:g.43609102T>A (hg19) ; chr10:g.43113654T>A (hg38)
• PubMed: PMID:7 ; PMID:112 ; PMID:384 ; PMID:720 ; PMID:849 ; PMID:930 ; PMID:7849720

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113654T>A , CM000672.2:g.43113654T>A	GRCh38
NC_000010.10:g.43609102T>A , CM000672.1:g.43609102T>A	GRCh37
NC_000010.9:g.42929108T>A	NCBI36
NG_007489.1:g.41586T>A , LRG_518:g.41586T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.1462T>A	ENSP00000480088.2:p.Cys488Ser
ENST00000683007.1:n.1432T>A
ENST00000683872.1:n.619T>A
ENST00000340058.6:c.1858T>A	ENSP00000344798.4:p.Cys620Ser
ENST00000355710.8:c.1858T>A MANE Select	ENSP00000347942.3:p.Cys620Ser
ENST00000671844.1:c.*452T>A	ENSP00000500541.1:n.*452T>A
ENST00000672389.1:c.*452T>A	ENSP00000500252.1:n.*452T>A
ENST00000340058.5:c.1858T>A	ENSP00000344798.4:p.Cys620Ser
ENST00000355710.7:c.1858T>A	ENSP00000347942.3:p.Cys620Ser
ENST00000498820.5:c.409T>A	ENSP00000419080.1:p.Cys137Ser
ENST00000615310.4:c.1289+2422T>A	ENSP00000480088.1:n.1289+2422T>A
NM_020630.4:c.1858T>A , LRG_518t2:c.1858T>A	NP_065681.1:p.Cys620Ser
NM_020975.4:c.1858T>A , LRG_518t1:c.1858T>A	NP_066124.1:p.Cys620Ser
XM_011540027.1:c.1858T>A	XP_011538329.1:p.Cys620Ser
NM_001355216.1:c.1096T>A	NP_001342145.1:p.Cys366Ser
NM_020630.5:c.1858T>A	NP_065681.1:p.Cys620Ser
NM_020975.5:c.1858T>A	NP_066124.1:p.Cys620Ser
NM_020975.6:c.1858T>A MANE Select	NP_066124.1:p.Cys620Ser
NM_020630.6:c.1858T>A	NP_065681.1:p.Cys620Ser