Canonical Allele Identifier: CA009192

Gene: RET

Linked Data

• ClinVar Variation Id: 135182
• ClinVar RCV Id: RCV000121984 ; RCV000793359
• dbSNP Id: rs79853121
• gnomAD v2: 10-43622099-C-A
• gnomAD v3: 10-43126651-C-A
• gnomAD v4: 10-43126651-C-A
• MyVariant Identifiers: chr10:g.43622099C>A (hg19) ; chr10:g.43126651C>A (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43126651C>A , CM000672.2:g.43126651C>A	GRCh38
NC_000010.10:g.43622099C>A , CM000672.1:g.43622099C>A	GRCh37
NC_000010.9:g.42942105C>A	NCBI36
NG_007489.1:g.54583C>A , LRG_518:g.54583C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.2720C>A	ENSP00000480088.2:p.Pro907Gln
ENST00000683007.1:n.2690C>A
ENST00000340058.6:c.3116C>A	ENSP00000344798.4:p.Pro1039Gln
ENST00000355710.8:c.3116C>A MANE Select	ENSP00000347942.3:p.Pro1039Gln
ENST00000671844.1:c.*1710C>A	ENSP00000500541.1:n.*1710C>A
ENST00000672389.1:c.*1710C>A	ENSP00000500252.1:n.*1710C>A
ENST00000340058.5:c.3116C>A	ENSP00000344798.4:p.Pro1039Gln
ENST00000355710.7:c.3116C>A	ENSP00000347942.3:p.Pro1039Gln
ENST00000615310.4:c.*465C>A	ENSP00000480088.1:n.*465C>A
NM_020630.4:c.3116C>A , LRG_518t2:c.3116C>A	NP_065681.1:p.Pro1039Gln
NM_020975.4:c.3116C>A , LRG_518t1:c.3116C>A	NP_066124.1:p.Pro1039Gln
XM_011540027.1:c.3116C>A	XP_011538329.1:p.Pro1039Gln
NM_001355216.1:c.2354C>A	NP_001342145.1:p.Pro785Gln
NM_020630.5:c.3116C>A	NP_065681.1:p.Pro1039Gln
NM_020975.5:c.3116C>A	NP_066124.1:p.Pro1039Gln
NM_020975.6:c.3116C>A MANE Select	NP_066124.1:p.Pro1039Gln
NM_020630.6:c.3116C>A	NP_065681.1:p.Pro1039Gln