Canonical Allele Identifier: CA007974

Gene: RET

Linked Data

• ClinVar Variation Id: 38601
• ClinVar RCV Id: RCV000032040 ; RCV000182594 ; RCV000569893 ; RCV003233028 ; RCV004532475
• dbSNP Id: rs76262710
• gnomAD v2: 10-43609096-T-A
• MyVariant Identifiers: chr10:g.43609096T>A (hg19) ; chr10:g.43113648T>A (hg38)
• PubMed: PMID:139 ; PMID:340 ; PMID:393 ; PMID:810 ; PMID:846 ; PMID:7849720 ; PMID:7874109 ; PMID:8103403 ; PMID:19177457 ; PMID:19469690 ; PMID:21765987 ; PMID:25810047

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113648T>A , CM000672.2:g.43113648T>A	GRCh38
NC_000010.10:g.43609096T>A , CM000672.1:g.43609096T>A	GRCh37
NC_000010.9:g.42929102T>A	NCBI36
NG_007489.1:g.41580T>A , LRG_518:g.41580T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1456T>A	ENSP00000480088.2:p.Cys486Ser
ENST00000683007.1:n.1426T>A
ENST00000683872.1:n.613T>A
ENST00000340058.6:c.1852T>A	ENSP00000344798.4:p.Cys618Ser
ENST00000355710.8:c.1852T>A MANE Select	ENSP00000347942.3:p.Cys618Ser
ENST00000671844.1:c.*446T>A	ENSP00000500541.1:n.*446T>A
ENST00000672389.1:c.*446T>A	ENSP00000500252.1:n.*446T>A
ENST00000340058.5:c.1852T>A	ENSP00000344798.4:p.Cys618Ser
ENST00000355710.7:c.1852T>A	ENSP00000347942.3:p.Cys618Ser
ENST00000498820.5:c.403T>A	ENSP00000419080.1:p.Cys135Ser
ENST00000615310.4:c.1289+2416T>A	ENSP00000480088.1:n.1289+2416T>A
NM_020630.4:c.1852T>A , LRG_518t2:c.1852T>A	NP_065681.1:p.Cys618Ser
NM_020975.4:c.1852T>A , LRG_518t1:c.1852T>A	NP_066124.1:p.Cys618Ser
XM_011540027.1:c.1852T>A	XP_011538329.1:p.Cys618Ser
NM_001355216.1:c.1090T>A	NP_001342145.1:p.Cys364Ser
NM_020630.5:c.1852T>A	NP_065681.1:p.Cys618Ser
NM_020975.5:c.1852T>A	NP_066124.1:p.Cys618Ser
NM_020975.6:c.1852T>A MANE Select	NP_066124.1:p.Cys618Ser
NM_020630.6:c.1852T>A	NP_065681.1:p.Cys618Ser