Canonical Allele Identifier: CA007949

Gene: RET

Linked Data

• ClinVar Variation Id: 24899
• ClinVar RCV Id: RCV000021787 ; RCV003233027 ; RCV002408472
• dbSNP Id: rs377767397
• gnomAD v4: 10-43113628-G-T
• MyVariant Identifiers: chr10:g.43609076G>T (hg19) ; chr10:g.43113628G>T (hg38)
• PubMed: PMID:234 ; PMID:420 ; PMID:683 ; PMID:862 ; PMID:979 ; PMID:8626834

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113628G>T , CM000672.2:g.43113628G>T	GRCh38
NC_000010.10:g.43609076G>T , CM000672.1:g.43609076G>T	GRCh37
NC_000010.9:g.42929082G>T	NCBI36
NG_007489.1:g.41560G>T , LRG_518:g.41560G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1436G>T	ENSP00000480088.2:p.Cys479Phe
ENST00000683007.1:n.1406G>T
ENST00000683872.1:n.593G>T
ENST00000340058.6:c.1832G>T	ENSP00000344798.4:p.Cys611Phe
ENST00000355710.8:c.1832G>T MANE Select	ENSP00000347942.3:p.Cys611Phe
ENST00000671844.1:c.*426G>T	ENSP00000500541.1:n.*426G>T
ENST00000672389.1:c.*426G>T	ENSP00000500252.1:n.*426G>T
ENST00000340058.5:c.1832G>T	ENSP00000344798.4:p.Cys611Phe
ENST00000355710.7:c.1832G>T	ENSP00000347942.3:p.Cys611Phe
ENST00000498820.5:c.383G>T	ENSP00000419080.1:p.Cys128Phe
ENST00000615310.4:c.1289+2396G>T	ENSP00000480088.1:n.1289+2396G>T
NM_020630.4:c.1832G>T , LRG_518t2:c.1832G>T	NP_065681.1:p.Cys611Phe
NM_020975.4:c.1832G>T , LRG_518t1:c.1832G>T	NP_066124.1:p.Cys611Phe
XM_011540027.1:c.1832G>T	XP_011538329.1:p.Cys611Phe
NM_001355216.1:c.1070G>T	NP_001342145.1:p.Cys357Phe
NM_020630.5:c.1832G>T	NP_065681.1:p.Cys611Phe
NM_020975.5:c.1832G>T	NP_066124.1:p.Cys611Phe
NM_020975.6:c.1832G>T MANE Select	NP_066124.1:p.Cys611Phe
NM_020630.6:c.1832G>T	NP_065681.1:p.Cys611Phe