Canonical Allele Identifier: CA009082

Gene: RET

Linked Data

• ClinVar Variation Id: 13919
• ClinVar RCV Id: RCV000014941 ; RCV000014942 ; RCV000014943 ; RCV000082054 ; RCV000175096 ; RCV000161926 ; RCV000417859 ; RCV000415312 ; RCV000425499 ; RCV000428538 ; RCV000444529 ; RCV000999916 ; RCV001292662 ; RCV001542764 ; RCV002255998 ; RCV004532351
• dbSNP Id: rs74799832
• gnomAD v2: 10-43617416-T-C
• COSMIC: COSM965 ; COSM4770356
• MyVariant Identifiers: chr10:g.43617416T>C (hg19) ; chr10:g.43121968T>C (hg38)
• CIViC: CA009082
• PubMed: PMID:1 ; PMID:68 ; PMID:79 ; PMID:171 ; PMID:200 ; PMID:416 ; PMID:550 ; PMID:553 ; PMID:661 ; PMID:705 ; PMID:784 ; PMID:826 ; PMID:2660074 ; PMID:3078962 ; PMID:7536460 ; PMID:7824936 ; PMID:7845675 ; PMID:7906417 ; PMID:7906866 ; PMID:7911697 ; PMID:7977365 ; PMID:8570194 ; PMID:8782503 ; PMID:8918855 ; PMID:9242375 ; PMID:9620546 ; PMID:9681850 ; PMID:9839497 ; PMID:10679286 ; PMID:11351254 ; PMID:15531714 ; PMID:18073307 ; PMID:18252215 ; PMID:18541894 ; PMID:19255327 ; PMID:20065189 ; PMID:20368568 ; PMID:20847059 ; PMID:21422803 ; PMID:21455200 ; PMID:21470995 ; PMID:21810974 ; PMID:22025146 ; PMID:23056499 ; PMID:23757202 ; PMID:23891399 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43121968T>C , CM000672.2:g.43121968T>C	GRCh38
NC_000010.10:g.43617416T>C , CM000672.1:g.43617416T>C	GRCh37
NC_000010.9:g.42937422T>C	NCBI36
NG_007489.1:g.49900T>C , LRG_518:g.49900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.2357T>C	ENSP00000480088.2:p.Met786Thr
ENST00000683007.1:n.2327T>C
ENST00000340058.6:c.2753T>C	ENSP00000344798.4:p.Met918Thr
ENST00000355710.8:c.2753T>C MANE Select	ENSP00000347942.3:p.Met918Thr
ENST00000671844.1:c.*1347T>C	ENSP00000500541.1:n.*1347T>C
ENST00000672389.1:c.*1347T>C	ENSP00000500252.1:n.*1347T>C
ENST00000340058.5:c.2753T>C	ENSP00000344798.4:p.Met918Thr
ENST00000355710.7:c.2753T>C	ENSP00000347942.3:p.Met918Thr
ENST00000615310.4:c.*102T>C	ENSP00000480088.1:n.*102T>C
NM_020630.4:c.2753T>C , LRG_518t2:c.2753T>C	NP_065681.1:p.Met918Thr
NM_020975.4:c.2753T>C , LRG_518t1:c.2753T>C	NP_066124.1:p.Met918Thr
XM_011540027.1:c.2753T>C	XP_011538329.1:p.Met918Thr
NM_001355216.1:c.1991T>C	NP_001342145.1:p.Met664Thr
NM_020630.5:c.2753T>C	NP_065681.1:p.Met918Thr
NM_020975.5:c.2753T>C	NP_066124.1:p.Met918Thr
NM_020975.6:c.2753T>C MANE Select	NP_066124.1:p.Met918Thr
NM_020630.6:c.2753T>C	NP_065681.1:p.Met918Thr