Canonical Allele Identifier: CA036871

Gene: RET

Linked Data

• ClinVar Variation Id: 486308
• ClinVar RCV Id: RCV000566339 ; RCV001359410 ; RCV002491139 ; RCV003222050
• dbSNP Id: rs776986585
• ExAC: 10:43610053 A / G
• gnomAD v2: 10-43610053-A-G
• gnomAD v3: 10-43114605-A-G
• gnomAD v4: 10-43114605-A-G
• MyVariant Identifiers: chr10:g.43610053A>G (hg19) ; chr10:g.43114605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114605A>G , CM000672.2:g.43114605A>G	GRCh38
NC_000010.10:g.43610053A>G , CM000672.1:g.43610053A>G	GRCh37
NC_000010.9:g.42930059A>G	NCBI36
NG_007489.1:g.42537A>G , LRG_518:g.42537A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1609A>G	ENSP00000480088.2:p.Ile537Val
ENST00000683007.1:n.1579A>G
ENST00000683872.1:n.1570A>G
ENST00000340058.6:c.2005A>G	ENSP00000344798.4:p.Ile669Val
ENST00000355710.8:c.2005A>G MANE Select	ENSP00000347942.3:p.Ile669Val
ENST00000671844.1:c.*599A>G	ENSP00000500541.1:n.*599A>G
ENST00000672389.1:c.*599A>G	ENSP00000500252.1:n.*599A>G
ENST00000340058.5:c.2005A>G	ENSP00000344798.4:p.Ile669Val
ENST00000355710.7:c.2005A>G	ENSP00000347942.3:p.Ile669Val
ENST00000615310.4:c.1289+3373A>G	ENSP00000480088.1:n.1289+3373A>G
NM_020630.4:c.2005A>G , LRG_518t2:c.2005A>G	NP_065681.1:p.Ile669Val
NM_020975.4:c.2005A>G , LRG_518t1:c.2005A>G	NP_066124.1:p.Ile669Val
XM_011540027.1:c.2005A>G	XP_011538329.1:p.Ile669Val
NM_001355216.1:c.1243A>G	NP_001342145.1:p.Ile415Val
NM_020630.5:c.2005A>G	NP_065681.1:p.Ile669Val
NM_020975.5:c.2005A>G	NP_066124.1:p.Ile669Val
NM_020975.6:c.2005A>G MANE Select	NP_066124.1:p.Ile669Val
NM_020630.6:c.2005A>G	NP_065681.1:p.Ile669Val