Canonical Allele Identifier: CA008085

Gene: RET

Linked Data

• ClinVar Variation Id: 13943
• ClinVar RCV Id: RCV000014970 ; RCV000021802 ; RCV000489707 ; RCV001013426 ; RCV004018626
• dbSNP Id: rs77503355
• COSMIC: COSM29805
• MyVariant Identifiers: chr10:g.43609103G>C (hg19) ; chr10:g.43113655G>C (hg38)
• PubMed: PMID:410 ; PMID:529 ; PMID:787 ; PMID:818 ; PMID:996 ; PMID:7874109 ; PMID:10777380 ; PMID:11454140

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113655G>C , CM000672.2:g.43113655G>C	GRCh38
NC_000010.10:g.43609103G>C , CM000672.1:g.43609103G>C	GRCh37
NC_000010.9:g.42929109G>C	NCBI36
NG_007489.1:g.41587G>C , LRG_518:g.41587G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1463G>C	ENSP00000480088.2:p.Cys488Ser
ENST00000683007.1:n.1433G>C
ENST00000683872.1:n.620G>C
ENST00000340058.6:c.1859G>C	ENSP00000344798.4:p.Cys620Ser
ENST00000355710.8:c.1859G>C MANE Select	ENSP00000347942.3:p.Cys620Ser
ENST00000671844.1:c.*453G>C	ENSP00000500541.1:n.*453G>C
ENST00000672389.1:c.*453G>C	ENSP00000500252.1:n.*453G>C
ENST00000340058.5:c.1859G>C	ENSP00000344798.4:p.Cys620Ser
ENST00000355710.7:c.1859G>C	ENSP00000347942.3:p.Cys620Ser
ENST00000498820.5:c.410G>C	ENSP00000419080.1:p.Cys137Ser
ENST00000615310.4:c.1289+2423G>C	ENSP00000480088.1:n.1289+2423G>C
NM_020630.4:c.1859G>C , LRG_518t2:c.1859G>C	NP_065681.1:p.Cys620Ser
NM_020975.4:c.1859G>C , LRG_518t1:c.1859G>C	NP_066124.1:p.Cys620Ser
XM_011540027.1:c.1859G>C	XP_011538329.1:p.Cys620Ser
NM_001355216.1:c.1097G>C	NP_001342145.1:p.Cys366Ser
NM_020630.5:c.1859G>C	NP_065681.1:p.Cys620Ser
NM_020975.5:c.1859G>C	NP_066124.1:p.Cys620Ser
NM_020975.6:c.1859G>C MANE Select	NP_066124.1:p.Cys620Ser
NM_020630.6:c.1859G>C	NP_065681.1:p.Cys620Ser