Canonical Allele Identifier: CA376552798

Gene: RET

Linked Data

• ClinVar Variation Id: 1781253
• ClinVar RCV Id: RCV002412940 ; RCV003097295
• gnomAD v4: 10-43113642-G-C
• MyVariant Identifiers: chr10:g.43609090G>C (hg19) ; chr10:g.43113642G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113642G>C , CM000672.2:g.43113642G>C	GRCh38
NC_000010.10:g.43609090G>C , CM000672.1:g.43609090G>C	GRCh37
NC_000010.9:g.42929096G>C	NCBI36
NG_007489.1:g.41574G>C , LRG_518:g.41574G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.1450G>C	ENSP00000480088.2:p.Glu484Gln
ENST00000683007.1:n.1420G>C
ENST00000683872.1:n.607G>C
ENST00000340058.6:c.1846G>C	ENSP00000344798.4:p.Glu616Gln
ENST00000355710.8:c.1846G>C MANE Select	ENSP00000347942.3:p.Glu616Gln
ENST00000671844.1:c.*440G>C	ENSP00000500541.1:n.*440G>C
ENST00000672389.1:c.*440G>C	ENSP00000500252.1:n.*440G>C
ENST00000340058.5:c.1846G>C	ENSP00000344798.4:p.Glu616Gln
ENST00000355710.7:c.1846G>C	ENSP00000347942.3:p.Glu616Gln
ENST00000498820.5:c.397G>C	ENSP00000419080.1:p.Glu133Gln
ENST00000615310.4:c.1289+2410G>C	ENSP00000480088.1:n.1289+2410G>C
NM_020630.4:c.1846G>C , LRG_518t2:c.1846G>C	NP_065681.1:p.Glu616Gln
NM_020975.4:c.1846G>C , LRG_518t1:c.1846G>C	NP_066124.1:p.Glu616Gln
XM_011540027.1:c.1846G>C	XP_011538329.1:p.Glu616Gln
NM_001355216.1:c.1084G>C	NP_001342145.1:p.Glu362Gln
NM_020630.5:c.1846G>C	NP_065681.1:p.Glu616Gln
NM_020975.5:c.1846G>C	NP_066124.1:p.Glu616Gln
NM_020975.6:c.1846G>C MANE Select	NP_066124.1:p.Glu616Gln
NM_020630.6:c.1846G>C	NP_065681.1:p.Glu616Gln