Canonical Allele Identifier: CA376555719
Gene: RET HGNC NCBI

Linked Data

ClinVar Variation Id: 1789766
ClinVar RCV Id: RCV002448226
dbSNP Id: rs1838124161

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43118423C>G , CM000672.2:g.43118423C>G GRCh38
NC_000010.10:g.43613871C>G , CM000672.1:g.43613871C>G GRCh37
NC_000010.9:g.42933877C>G NCBI36
NG_007489.1:g.46355C>G , LRG_518:g.46355C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000615310.5:c.1939C>G ENSP00000480088.2:p.Leu647Val
ENST00000683007.1:n.1909C>G
ENST00000683872.1:n.1900C>G
ENST00000340058.6:c.2335C>G ENSP00000344798.4:p.Leu779Val
ENST00000355710.8:c.2335C>G MANE Select ENSP00000347942.3:p.Leu779Val
ENST00000671844.1:c.*929C>G ENSP00000500541.1:n.*929C>G
ENST00000672389.1:c.*929C>G ENSP00000500252.1:n.*929C>G
ENST00000340058.5:c.2335C>G ENSP00000344798.4:p.Leu779Val
ENST00000355710.7:c.2335C>G ENSP00000347942.3:p.Leu779Val
ENST00000615310.4:c.1290-1279C>G ENSP00000480088.1:n.1290-1279C>G
NM_020630.4:c.2335C>G , LRG_518t2:c.2335C>G NP_065681.1:p.Leu779Val
NM_020975.4:c.2335C>G , LRG_518t1:c.2335C>G NP_066124.1:p.Leu779Val
XM_011540027.1:c.2335C>G XP_011538329.1:p.Leu779Val
NM_001355216.1:c.1573C>G NP_001342145.1:p.Leu525Val
NM_020630.5:c.2335C>G NP_065681.1:p.Leu779Val
NM_020975.5:c.2335C>G NP_066124.1:p.Leu779Val
NM_020975.6:c.2335C>G MANE Select NP_066124.1:p.Leu779Val
NM_020630.6:c.2335C>G NP_065681.1:p.Leu779Val