Canonical Allele Identifier: CA007834

Gene: RET

Linked Data

• ClinVar Variation Id: 1372611
• ClinVar RCV Id: RCV001908064 ; RCV002258320 ; RCV003316853
• dbSNP Id: rs77939446
• MyVariant Identifiers: chr10:g.43609070G>C (hg19) ; chr10:g.43113622G>C (hg38)
• PubMed: PMID:11 ; PMID:209 ; PMID:247 ; PMID:300 ; PMID:524 ; PMID:792 ; PMID:11524247

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113622G>C , CM000672.2:g.43113622G>C	GRCh38
NC_000010.10:g.43609070G>C , CM000672.1:g.43609070G>C	GRCh37
NC_000010.9:g.42929076G>C	NCBI36
NG_007489.1:g.41554G>C , LRG_518:g.41554G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1430G>C	ENSP00000480088.2:p.Cys477Ser
ENST00000683007.1:n.1400G>C
ENST00000683872.1:n.587G>C
ENST00000340058.6:c.1826G>C	ENSP00000344798.4:p.Cys609Ser
ENST00000355710.8:c.1826G>C MANE Select	ENSP00000347942.3:p.Cys609Ser
ENST00000671844.1:c.*420G>C	ENSP00000500541.1:n.*420G>C
ENST00000672389.1:c.*420G>C	ENSP00000500252.1:n.*420G>C
ENST00000340058.5:c.1826G>C	ENSP00000344798.4:p.Cys609Ser
ENST00000355710.7:c.1826G>C	ENSP00000347942.3:p.Cys609Ser
ENST00000498820.5:c.377G>C	ENSP00000419080.1:p.Cys126Ser
ENST00000615310.4:c.1289+2390G>C	ENSP00000480088.1:n.1289+2390G>C
NM_020630.4:c.1826G>C , LRG_518t2:c.1826G>C	NP_065681.1:p.Cys609Ser
NM_020975.4:c.1826G>C , LRG_518t1:c.1826G>C	NP_066124.1:p.Cys609Ser
XM_011540027.1:c.1826G>C	XP_011538329.1:p.Cys609Ser
NM_001355216.1:c.1064G>C	NP_001342145.1:p.Cys355Ser
NM_020630.5:c.1826G>C	NP_065681.1:p.Cys609Ser
NM_020975.5:c.1826G>C	NP_066124.1:p.Cys609Ser
NM_020975.6:c.1826G>C MANE Select	NP_066124.1:p.Cys609Ser
NM_020630.6:c.1826G>C	NP_065681.1:p.Cys609Ser