Canonical Allele Identifier: CA008726
Gene: RET HGNC NCBI

Linked Data

ClinVar Variation Id: 13936
ClinVar RCV Id: RCV000014962 RCV000014963 RCV000034771 RCV000130367 RCV000148769 RCV000235206 RCV000312825 RCV000370653 RCV000400976 RCV000419149 RCV000426589 RCV000431156 RCV000436831 RCV000441584 RCV000754613 RCV001083710
dbSNP Id: rs77724903
ExAC: 10:43613908 A / T
gnomAD v2: 10-43613908-A-T
gnomAD v3: 10-43118460-A-T
gnomAD v4: 10-43118460-A-T
COSMIC: COSM1159820
MyVariant Identifiers: chr10:g.43613908A>T (hg19) chr10:g.43118460A>T (hg38)
PubMed: PMID:9 PMID:67 PMID:199 PMID:506 PMID:724 PMID:840 PMID:9090527 PMID:9506724 PMID:12000816 PMID:12566528 PMID:15320968 PMID:15531714 PMID:15753368 PMID:15870131 PMID:16118333 PMID:16705552 PMID:17102091 PMID:17483988 PMID:19826964 PMID:19906784 PMID:20080836 PMID:21810974 PMID:22703879 PMID:22837065 PMID:23330657 PMID:23551045 PMID:23891399 PMID:24055113 PMID:24375508 PMID:24466223 PMID:25333069 PMID:25425582 PMID:25637381 PMID:26209941 PMID:27594983
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43118460A>T , CM000672.2:g.43118460A>T GRCh38
NC_000010.10:g.43613908A>T , CM000672.1:g.43613908A>T GRCh37
NC_000010.9:g.42933914A>T NCBI36
NG_007489.1:g.46392A>T , LRG_518:g.46392A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000615310.5:c.1976A>T ENSP00000480088.2:p.Tyr659Phe
ENST00000683007.1:n.1946A>T
ENST00000683872.1:n.1937A>T
ENST00000340058.6:c.2372A>T ENSP00000344798.4:p.Tyr791Phe
ENST00000355710.8:c.2372A>T MANE Select ENSP00000347942.3:p.Tyr791Phe
ENST00000671844.1:c.*966A>T ENSP00000500541.1:n.*966A>T
ENST00000672389.1:c.*966A>T ENSP00000500252.1:n.*966A>T
ENST00000340058.5:c.2372A>T ENSP00000344798.4:p.Tyr791Phe
ENST00000355710.7:c.2372A>T ENSP00000347942.3:p.Tyr791Phe
ENST00000615310.4:c.1290-1242A>T ENSP00000480088.1:n.1290-1242A>T
NM_020630.4:c.2372A>T , LRG_518t2:c.2372A>T NP_065681.1:p.Tyr791Phe
NM_020975.4:c.2372A>T , LRG_518t1:c.2372A>T NP_066124.1:p.Tyr791Phe
XM_011540027.1:c.2372A>T XP_011538329.1:p.Tyr791Phe
NM_001355216.1:c.1610A>T NP_001342145.1:p.Tyr537Phe
NM_020630.5:c.2372A>T NP_065681.1:p.Tyr791Phe
NM_020975.5:c.2372A>T NP_066124.1:p.Tyr791Phe
NM_020975.6:c.2372A>T MANE Select NP_066124.1:p.Tyr791Phe
NM_020630.6:c.2372A>T NP_065681.1:p.Tyr791Phe
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