Canonical Allele Identifier: CA007995

Gene: RET

Linked Data

• ClinVar Variation Id: 13905
• ClinVar RCV Id: RCV000014919 ; RCV000228834 ; RCV000522833 ; RCV000762807 ; RCV002408462 ; RCV002470710
• dbSNP Id: rs76262710
• gnomAD v4: 10-43113648-T-G
• MyVariant Identifiers: chr10:g.43609096T>G (hg19) ; chr10:g.43113648T>G (hg38)
• PubMed: PMID:292 ; PMID:301 ; PMID:809 ; PMID:920 ; PMID:928 ; PMID:3078962 ; PMID:7907913 ; PMID:8099202 ; PMID:8626834 ; PMID:9868860 ; PMID:11238493

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1456T>G	ENSP00000480088.2:p.Cys486Gly
ENST00000683007.1:n.1426T>G
ENST00000683872.1:n.613T>G
ENST00000340058.6:c.1852T>G	ENSP00000344798.4:p.Cys618Gly
ENST00000355710.8:c.1852T>G MANE Select	ENSP00000347942.3:p.Cys618Gly
ENST00000671844.1:c.*446T>G	ENSP00000500541.1:n.*446T>G
ENST00000672389.1:c.*446T>G	ENSP00000500252.1:n.*446T>G
ENST00000340058.5:c.1852T>G	ENSP00000344798.4:p.Cys618Gly
ENST00000355710.7:c.1852T>G	ENSP00000347942.3:p.Cys618Gly
ENST00000498820.5:c.403T>G	ENSP00000419080.1:p.Cys135Gly
ENST00000615310.4:c.1289+2416T>G	ENSP00000480088.1:n.1289+2416T>G
NM_020630.4:c.1852T>G , LRG_518t2:c.1852T>G	NP_065681.1:p.Cys618Gly
NM_020975.4:c.1852T>G , LRG_518t1:c.1852T>G	NP_066124.1:p.Cys618Gly
XM_011540027.1:c.1852T>G	XP_011538329.1:p.Cys618Gly
NM_001355216.1:c.1090T>G	NP_001342145.1:p.Cys364Gly
NM_020630.5:c.1852T>G	NP_065681.1:p.Cys618Gly
NM_020975.5:c.1852T>G	NP_066124.1:p.Cys618Gly
NM_020975.6:c.1852T>G MANE Select	NP_066124.1:p.Cys618Gly
NM_020630.6:c.1852T>G	NP_065681.1:p.Cys618Gly