Canonical Allele Identifier: CA008348

Gene: RET

Linked Data

• ClinVar Variation Id: 13909
• ClinVar RCV Id: RCV000014925 ; RCV000014924 ; RCV000129490 ; RCV000182582 ; RCV000421191 ; RCV000432822 ; RCV000422622 ; RCV000425364 ; RCV000476408 ; RCV000438527 ; RCV003989285
• dbSNP Id: rs75996173
• gnomAD v2: 10-43609949-G-A
• gnomAD v4: 10-43114501-G-A
• COSMIC: COSM974
• MyVariant Identifiers: chr10:g.43609949G>A (hg19) ; chr10:g.43114501G>A (hg38)
• PubMed: PMID:51 ; PMID:200 ; PMID:212 ; PMID:361 ; PMID:761 ; PMID:791 ; PMID:808 ; PMID:809 ; PMID:864 ; PMID:920 ; PMID:3078962 ; PMID:7824936 ; PMID:7881414 ; PMID:7907913 ; PMID:7914213 ; PMID:8099202 ; PMID:8570194 ; PMID:9067749 ; PMID:9699127 ; PMID:12000816 ; PMID:12686527 ; PMID:16868135 ; PMID:18063059 ; PMID:19469690 ; PMID:20080836 ; PMID:21655256 ; PMID:21765987 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114501G>A , CM000672.2:g.43114501G>A	GRCh38
NC_000010.10:g.43609949G>A , CM000672.1:g.43609949G>A	GRCh37
NC_000010.9:g.42929955G>A	NCBI36
NG_007489.1:g.42433G>A , LRG_518:g.42433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1505G>A	ENSP00000480088.2:p.Cys502Tyr
ENST00000683007.1:n.1475G>A
ENST00000683872.1:n.1466G>A
ENST00000340058.6:c.1901G>A	ENSP00000344798.4:p.Cys634Tyr
ENST00000355710.8:c.1901G>A MANE Select	ENSP00000347942.3:p.Cys634Tyr
ENST00000671844.1:c.*495G>A	ENSP00000500541.1:n.*495G>A
ENST00000672389.1:c.*495G>A	ENSP00000500252.1:n.*495G>A
ENST00000340058.5:c.1901G>A	ENSP00000344798.4:p.Cys634Tyr
ENST00000355710.7:c.1901G>A	ENSP00000347942.3:p.Cys634Tyr
ENST00000498820.5:c.452G>A	ENSP00000419080.1:p.Cys151Tyr
ENST00000615310.4:c.1289+3269G>A	ENSP00000480088.1:n.1289+3269G>A
NM_020630.4:c.1901G>A , LRG_518t2:c.1901G>A	NP_065681.1:p.Cys634Tyr
NM_020975.4:c.1901G>A , LRG_518t1:c.1901G>A	NP_066124.1:p.Cys634Tyr
XM_011540027.1:c.1901G>A	XP_011538329.1:p.Cys634Tyr
NM_001355216.1:c.1139G>A	NP_001342145.1:p.Cys380Tyr
NM_020630.5:c.1901G>A	NP_065681.1:p.Cys634Tyr
NM_020975.5:c.1901G>A	NP_066124.1:p.Cys634Tyr
NM_020975.6:c.1901G>A MANE Select	NP_066124.1:p.Cys634Tyr
NM_020630.6:c.1901G>A	NP_065681.1:p.Cys634Tyr