Canonical Allele Identifier: CA007824
Gene: RET HGNC NCBI

Linked Data

ClinVar Variation Id: 13933
ClinVar RCV Id: RCV000014958 RCV000168107 RCV000082049 RCV000173889 RCV000441078 RCV000444552 RCV000496009 RCV000509116 RCV000424503 RCV000431942 RCV000562113 RCV003460480 RCV004532352
dbSNP Id: rs77939446
gnomAD v2: 10-43609070-G-A
gnomAD v3: 10-43113622-G-A
gnomAD v4: 10-43113622-G-A
COSMIC: COSM967
MyVariant Identifiers: chr10:g.43609070G>A (hg19) chr10:g.43113622G>A (hg38)
PubMed: PMID:79 PMID:139 PMID:192 PMID:230 PMID:900 PMID:7849720 PMID:7907913 PMID:9384613 PMID:10490816 PMID:11562352 PMID:18206480 PMID:19731974 PMID:21986619 PMID:22270996 PMID:27994876
CIViC: CA007824
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43113622G>A , CM000672.2:g.43113622G>A GRCh38
NC_000010.10:g.43609070G>A , CM000672.1:g.43609070G>A GRCh37
NC_000010.9:g.42929076G>A NCBI36
NG_007489.1:g.41554G>A , LRG_518:g.41554G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000615310.5:c.1430G>A ENSP00000480088.2:p.Cys477Tyr
ENST00000683007.1:n.1400G>A
ENST00000683872.1:n.587G>A
ENST00000340058.6:c.1826G>A ENSP00000344798.4:p.Cys609Tyr
ENST00000355710.8:c.1826G>A MANE Select ENSP00000347942.3:p.Cys609Tyr
ENST00000671844.1:c.*420G>A ENSP00000500541.1:n.*420G>A
ENST00000672389.1:c.*420G>A ENSP00000500252.1:n.*420G>A
ENST00000340058.5:c.1826G>A ENSP00000344798.4:p.Cys609Tyr
ENST00000355710.7:c.1826G>A ENSP00000347942.3:p.Cys609Tyr
ENST00000498820.5:c.377G>A ENSP00000419080.1:p.Cys126Tyr
ENST00000615310.4:c.1289+2390G>A ENSP00000480088.1:n.1289+2390G>A
NM_020630.4:c.1826G>A , LRG_518t2:c.1826G>A NP_065681.1:p.Cys609Tyr
NM_020975.4:c.1826G>A , LRG_518t1:c.1826G>A NP_066124.1:p.Cys609Tyr
XM_011540027.1:c.1826G>A XP_011538329.1:p.Cys609Tyr
NM_001355216.1:c.1064G>A NP_001342145.1:p.Cys355Tyr
NM_020630.5:c.1826G>A NP_065681.1:p.Cys609Tyr
NM_020975.5:c.1826G>A NP_066124.1:p.Cys609Tyr
NM_020975.6:c.1826G>A MANE Select NP_066124.1:p.Cys609Tyr
NM_020630.6:c.1826G>A NP_065681.1:p.Cys609Tyr
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