Canonical Allele Identifier: CA376555996

Gene: RET

Linked Data

• ClinVar Variation Id: 1790624
• ClinVar RCV Id: RCV002450208 ; RCV003098847
• dbSNP Id: rs2132942152
• gnomAD v4: 10-43119534-C-T
• COSMIC: COSM4480164 ; COSM4480165
• MyVariant Identifiers: chr10:g.43614982C>T (hg19) ; chr10:g.43119534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43119534C>T , CM000672.2:g.43119534C>T	GRCh38
NC_000010.10:g.43614982C>T , CM000672.1:g.43614982C>T	GRCh37
NC_000010.9:g.42934988C>T	NCBI36
NG_007489.1:g.47466C>T , LRG_518:g.47466C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.2000C>T	ENSP00000480088.2:p.Pro667Leu
ENST00000683007.1:n.1970C>T
ENST00000683872.1:n.1961C>T
ENST00000340058.6:c.2396C>T	ENSP00000344798.4:p.Pro799Leu
ENST00000355710.8:c.2396C>T MANE Select	ENSP00000347942.3:p.Pro799Leu
ENST00000671844.1:c.*990C>T	ENSP00000500541.1:n.*990C>T
ENST00000672389.1:c.*990C>T	ENSP00000500252.1:n.*990C>T
ENST00000340058.5:c.2396C>T	ENSP00000344798.4:p.Pro799Leu
ENST00000355710.7:c.2396C>T	ENSP00000347942.3:p.Pro799Leu
ENST00000615310.4:c.1290-168C>T	ENSP00000480088.1:n.1290-168C>T
NM_020630.4:c.2396C>T , LRG_518t2:c.2396C>T	NP_065681.1:p.Pro799Leu
NM_020975.4:c.2396C>T , LRG_518t1:c.2396C>T	NP_066124.1:p.Pro799Leu
XM_011540027.1:c.2396C>T	XP_011538329.1:p.Pro799Leu
NM_001355216.1:c.1634C>T	NP_001342145.1:p.Pro545Leu
NM_020630.5:c.2396C>T	NP_065681.1:p.Pro799Leu
NM_020975.5:c.2396C>T	NP_066124.1:p.Pro799Leu
NM_020975.6:c.2396C>T MANE Select	NP_066124.1:p.Pro799Leu
NM_020630.6:c.2396C>T	NP_065681.1:p.Pro799Leu