Canonical Allele Identifier: CA008105

Gene: RET

Linked Data

• ClinVar Variation Id: 13934
• ClinVar RCV Id: RCV000014959 ; RCV000021789 ; RCV002272020 ; RCV000566125
• dbSNP Id: rs79890926
• MyVariant Identifiers: chr10:g.43609104C>G (hg19) ; chr10:g.43113656C>G (hg38)
• PubMed: PMID:9 ; PMID:68 ; PMID:320 ; PMID:461 ; PMID:588 ; PMID:938 ; PMID:9068588 ; PMID:9146685 ; PMID:9384613 ; PMID:11562352 ; PMID:19469690 ; PMID:20152359 ; PMID:20979234 ; PMID:25810047

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113656C>G , CM000672.2:g.43113656C>G	GRCh38
NC_000010.10:g.43609104C>G , CM000672.1:g.43609104C>G	GRCh37
NC_000010.9:g.42929110C>G	NCBI36
NG_007489.1:g.41588C>G , LRG_518:g.41588C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1464C>G	ENSP00000480088.2:p.Cys488Trp
ENST00000683007.1:n.1434C>G
ENST00000683872.1:n.621C>G
ENST00000340058.6:c.1860C>G	ENSP00000344798.4:p.Cys620Trp
ENST00000355710.8:c.1860C>G MANE Select	ENSP00000347942.3:p.Cys620Trp
ENST00000671844.1:c.*454C>G	ENSP00000500541.1:n.*454C>G
ENST00000672389.1:c.*454C>G	ENSP00000500252.1:n.*454C>G
ENST00000340058.5:c.1860C>G	ENSP00000344798.4:p.Cys620Trp
ENST00000355710.7:c.1860C>G	ENSP00000347942.3:p.Cys620Trp
ENST00000498820.5:c.411C>G	ENSP00000419080.1:p.Cys137Trp
ENST00000615310.4:c.1289+2424C>G	ENSP00000480088.1:n.1289+2424C>G
NM_020630.4:c.1860C>G , LRG_518t2:c.1860C>G	NP_065681.1:p.Cys620Trp
NM_020975.4:c.1860C>G , LRG_518t1:c.1860C>G	NP_066124.1:p.Cys620Trp
XM_011540027.1:c.1860C>G	XP_011538329.1:p.Cys620Trp
NM_001355216.1:c.1098C>G	NP_001342145.1:p.Cys366Trp
NM_020630.5:c.1860C>G	NP_065681.1:p.Cys620Trp
NM_020975.5:c.1860C>G	NP_066124.1:p.Cys620Trp
NM_020975.6:c.1860C>G MANE Select	NP_066124.1:p.Cys620Trp
NM_020630.6:c.1860C>G	NP_065681.1:p.Cys620Trp