Canonical Allele Identifier: CA008295

Gene: RET

Linked Data

• ClinVar Variation Id: 216718
• ClinVar RCV Id: RCV000196130 ; RCV000411153 ; RCV000410079 ; RCV002478712 ; RCV003165476 ; RCV002503784
• dbSNP Id: rs267607010
• gnomAD v2: 10-43609945-C-G
• gnomAD v3: 10-43114497-C-G
• gnomAD v4: 10-43114497-C-G
• MyVariant Identifiers: chr10:g.43609945C>G (hg19) ; chr10:g.43114497C>G (hg38)
• PubMed: PMID:8099202

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114497C>G , CM000672.2:g.43114497C>G	GRCh38
NC_000010.10:g.43609945C>G , CM000672.1:g.43609945C>G	GRCh37
NC_000010.9:g.42929951C>G	NCBI36
NG_007489.1:g.42429C>G , LRG_518:g.42429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1501C>G	ENSP00000480088.2:p.Leu501Val
ENST00000683007.1:n.1471C>G
ENST00000683872.1:n.1462C>G
ENST00000340058.6:c.1897C>G	ENSP00000344798.4:p.Leu633Val
ENST00000355710.8:c.1897C>G MANE Select	ENSP00000347942.3:p.Leu633Val
ENST00000671844.1:c.*491C>G	ENSP00000500541.1:n.*491C>G
ENST00000672389.1:c.*491C>G	ENSP00000500252.1:n.*491C>G
ENST00000340058.5:c.1897C>G	ENSP00000344798.4:p.Leu633Val
ENST00000355710.7:c.1897C>G	ENSP00000347942.3:p.Leu633Val
ENST00000498820.5:c.448C>G	ENSP00000419080.1:p.Leu150Val
ENST00000615310.4:c.1289+3265C>G	ENSP00000480088.1:n.1289+3265C>G
NM_020630.4:c.1897C>G , LRG_518t2:c.1897C>G	NP_065681.1:p.Leu633Val
NM_020975.4:c.1897C>G , LRG_518t1:c.1897C>G	NP_066124.1:p.Leu633Val
XM_011540027.1:c.1897C>G	XP_011538329.1:p.Leu633Val
NM_001355216.1:c.1135C>G	NP_001342145.1:p.Leu379Val
NM_020630.5:c.1897C>G	NP_065681.1:p.Leu633Val
NM_020975.5:c.1897C>G	NP_066124.1:p.Leu633Val
NM_020975.6:c.1897C>G MANE Select	NP_066124.1:p.Leu633Val
NM_020630.6:c.1897C>G	NP_065681.1:p.Leu633Val