Canonical Allele Identifier: CA376553058

Gene: RET

Linked Data

• ClinVar Variation Id: 1392057
• ClinVar RCV Id: RCV001893394
• dbSNP Id: rs2132848413
• COSMIC: COSM6438197
• MyVariant Identifiers: chr10:g.43610025C>G (hg19) ; chr10:g.43114577C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114577C>G , CM000672.2:g.43114577C>G	GRCh38
NC_000010.10:g.43610025C>G , CM000672.1:g.43610025C>G	GRCh37
NC_000010.9:g.42930031C>G	NCBI36
NG_007489.1:g.42509C>G , LRG_518:g.42509C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.1581C>G	ENSP00000480088.2:p.Cys527Trp
ENST00000683007.1:n.1551C>G
ENST00000683872.1:n.1542C>G
ENST00000340058.6:c.1977C>G	ENSP00000344798.4:p.Cys659Trp
ENST00000355710.8:c.1977C>G MANE Select	ENSP00000347942.3:p.Cys659Trp
ENST00000671844.1:c.*571C>G	ENSP00000500541.1:n.*571C>G
ENST00000672389.1:c.*571C>G	ENSP00000500252.1:n.*571C>G
ENST00000340058.5:c.1977C>G	ENSP00000344798.4:p.Cys659Trp
ENST00000355710.7:c.1977C>G	ENSP00000347942.3:p.Cys659Trp
ENST00000498820.5:c.528C>G	ENSP00000419080.1:p.Cys176Trp
ENST00000615310.4:c.1289+3345C>G	ENSP00000480088.1:n.1289+3345C>G
NM_020630.4:c.1977C>G , LRG_518t2:c.1977C>G	NP_065681.1:p.Cys659Trp
NM_020975.4:c.1977C>G , LRG_518t1:c.1977C>G	NP_066124.1:p.Cys659Trp
XM_011540027.1:c.1977C>G	XP_011538329.1:p.Cys659Trp
NM_001355216.1:c.1215C>G	NP_001342145.1:p.Cys405Trp
NM_020630.5:c.1977C>G	NP_065681.1:p.Cys659Trp
NM_020975.5:c.1977C>G	NP_066124.1:p.Cys659Trp
NM_020975.6:c.1977C>G MANE Select	NP_066124.1:p.Cys659Trp
NM_020630.6:c.1977C>G	NP_065681.1:p.Cys659Trp