Canonical Allele Identifier: CA008055

Gene: RET

Linked Data

• ClinVar Variation Id: 13915
• ClinVar RCV Id: RCV000014935 ; RCV000182580 ; RCV000232285 ; RCV000568259 ; RCV000736276 ; RCV000826204
• dbSNP Id: rs77316810
• gnomAD v4: 10-43113654-T-C
• COSMIC: COSM29804
• MyVariant Identifiers: chr10:g.43609102T>C (hg19) ; chr10:g.43113654T>C (hg38)
• PubMed: PMID:8 ; PMID:103 ; PMID:180 ; PMID:403 ; PMID:590 ; PMID:630 ; PMID:7874109 ; PMID:8103403 ; PMID:15744028 ; PMID:19336503 ; PMID:21765987 ; PMID:21986619

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.1462T>C	ENSP00000480088.2:p.Cys488Arg
ENST00000683007.1:n.1432T>C
ENST00000683872.1:n.619T>C
ENST00000340058.6:c.1858T>C	ENSP00000344798.4:p.Cys620Arg
ENST00000355710.8:c.1858T>C MANE Select	ENSP00000347942.3:p.Cys620Arg
ENST00000671844.1:c.*452T>C	ENSP00000500541.1:n.*452T>C
ENST00000672389.1:c.*452T>C	ENSP00000500252.1:n.*452T>C
ENST00000340058.5:c.1858T>C	ENSP00000344798.4:p.Cys620Arg
ENST00000355710.7:c.1858T>C	ENSP00000347942.3:p.Cys620Arg
ENST00000498820.5:c.409T>C	ENSP00000419080.1:p.Cys137Arg
ENST00000615310.4:c.1289+2422T>C	ENSP00000480088.1:n.1289+2422T>C
NM_020630.4:c.1858T>C , LRG_518t2:c.1858T>C	NP_065681.1:p.Cys620Arg
NM_020975.4:c.1858T>C , LRG_518t1:c.1858T>C	NP_066124.1:p.Cys620Arg
XM_011540027.1:c.1858T>C	XP_011538329.1:p.Cys620Arg
NM_001355216.1:c.1096T>C	NP_001342145.1:p.Cys366Arg
NM_020630.5:c.1858T>C	NP_065681.1:p.Cys620Arg
NM_020975.5:c.1858T>C	NP_066124.1:p.Cys620Arg
NM_020975.6:c.1858T>C MANE Select	NP_066124.1:p.Cys620Arg
NM_020630.6:c.1858T>C	NP_065681.1:p.Cys620Arg