Canonical Allele Identifier: CA008315

Gene: RET

Linked Data

• ClinVar Variation Id: 13917
• ClinVar RCV Id: RCV000014937 ; RCV000014938 ; RCV000163338 ; RCV000082051 ; RCV000420446 ; RCV000430685 ; RCV000431794 ; RCV000420995 ; RCV000552504 ; RCV000677899 ; RCV003460479
• dbSNP Id: rs75076352
• ExAC: 10:43609948 T / C
• gnomAD v2: 10-43609948-T-C
• gnomAD v3: 10-43114500-T-C
• gnomAD v4: 10-43114500-T-C
• COSMIC: COSM966
• MyVariant Identifiers: chr10:g.43609948T>C (hg19) ; chr10:g.43114500T>C (hg38)
• PubMed: PMID:218 ; PMID:311 ; PMID:340 ; PMID:810 ; PMID:900 ; PMID:2904651 ; PMID:3078962 ; PMID:7824936 ; PMID:7849700 ; PMID:7907913 ; PMID:8103403 ; PMID:8570194 ; PMID:8757765 ; PMID:8918855 ; PMID:10522989 ; PMID:12000816 ; PMID:12466368 ; PMID:15184865 ; PMID:18063059 ; PMID:23210566 ; PMID:23617071 ; PMID:24561444 ; PMID:24784869 ; PMID:25157968 ; PMID:27539324 ; PMID:28469506

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114500T>C , CM000672.2:g.43114500T>C	GRCh38
NC_000010.10:g.43609948T>C , CM000672.1:g.43609948T>C	GRCh37
NC_000010.9:g.42929954T>C	NCBI36
NG_007489.1:g.42432T>C , LRG_518:g.42432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1504T>C	ENSP00000480088.2:p.Cys502Arg
ENST00000683007.1:n.1474T>C
ENST00000683872.1:n.1465T>C
ENST00000340058.6:c.1900T>C	ENSP00000344798.4:p.Cys634Arg
ENST00000355710.8:c.1900T>C MANE Select	ENSP00000347942.3:p.Cys634Arg
ENST00000671844.1:c.*494T>C	ENSP00000500541.1:n.*494T>C
ENST00000672389.1:c.*494T>C	ENSP00000500252.1:n.*494T>C
ENST00000340058.5:c.1900T>C	ENSP00000344798.4:p.Cys634Arg
ENST00000355710.7:c.1900T>C	ENSP00000347942.3:p.Cys634Arg
ENST00000498820.5:c.451T>C	ENSP00000419080.1:p.Cys151Arg
ENST00000615310.4:c.1289+3268T>C	ENSP00000480088.1:n.1289+3268T>C
NM_020630.4:c.1900T>C , LRG_518t2:c.1900T>C	NP_065681.1:p.Cys634Arg
NM_020975.4:c.1900T>C , LRG_518t1:c.1900T>C	NP_066124.1:p.Cys634Arg
XM_011540027.1:c.1900T>C	XP_011538329.1:p.Cys634Arg
NM_001355216.1:c.1138T>C	NP_001342145.1:p.Cys380Arg
NM_020630.5:c.1900T>C	NP_065681.1:p.Cys634Arg
NM_020975.5:c.1900T>C	NP_066124.1:p.Cys634Arg
NM_020975.6:c.1900T>C MANE Select	NP_066124.1:p.Cys634Arg
NM_020630.6:c.1900T>C	NP_065681.1:p.Cys634Arg