Canonical Allele Identifier: CA008190

Gene: RET

Linked Data

• ClinVar Variation Id: 24913
• ClinVar RCV Id: RCV000519407 ; RCV000696792 ; RCV000564566 ; RCV001818172 ; RCV003460488 ; RCV002477000
• dbSNP Id: rs377767406
• ExAC: 10:43609939 G / A
• gnomAD v2: 10-43609939-G-A
• gnomAD v3: 10-43114491-G-A
• gnomAD v4: 10-43114491-G-A
• COSMIC: COSM1237916
• MyVariant Identifiers: chr10:g.43609939G>A (hg19) ; chr10:g.43114491G>A (hg38)
• PubMed: PMID:10049754 ; PMID:21479187 ; PMID:25810047

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114491G>A , CM000672.2:g.43114491G>A	GRCh38
NC_000010.10:g.43609939G>A , CM000672.1:g.43609939G>A	GRCh37
NC_000010.9:g.42929945G>A	NCBI36
NG_007489.1:g.42423G>A , LRG_518:g.42423G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1495G>A	ENSP00000480088.2:p.Asp499Asn
ENST00000683007.1:n.1465G>A
ENST00000683872.1:n.1456G>A
ENST00000340058.6:c.1891G>A	ENSP00000344798.4:p.Asp631Asn
ENST00000355710.8:c.1891G>A MANE Select	ENSP00000347942.3:p.Asp631Asn
ENST00000671844.1:c.*485G>A	ENSP00000500541.1:n.*485G>A
ENST00000672389.1:c.*485G>A	ENSP00000500252.1:n.*485G>A
ENST00000340058.5:c.1891G>A	ENSP00000344798.4:p.Asp631Asn
ENST00000355710.7:c.1891G>A	ENSP00000347942.3:p.Asp631Asn
ENST00000498820.5:c.442G>A	ENSP00000419080.1:p.Asp148Asn
ENST00000615310.4:c.1289+3259G>A	ENSP00000480088.1:n.1289+3259G>A
NM_020630.4:c.1891G>A , LRG_518t2:c.1891G>A	NP_065681.1:p.Asp631Asn
NM_020975.4:c.1891G>A , LRG_518t1:c.1891G>A	NP_066124.1:p.Asp631Asn
XM_011540027.1:c.1891G>A	XP_011538329.1:p.Asp631Asn
NM_001355216.1:c.1129G>A	NP_001342145.1:p.Asp377Asn
NM_020630.5:c.1891G>A	NP_065681.1:p.Asp631Asn
NM_020975.5:c.1891G>A	NP_066124.1:p.Asp631Asn
NM_020975.6:c.1891G>A MANE Select	NP_066124.1:p.Asp631Asn
NM_020630.6:c.1891G>A	NP_065681.1:p.Asp631Asn