Canonical Allele Identifier: CA008751

Gene: RET

Linked Data

• ClinVar Variation Id: 37102
• ClinVar RCV Id: RCV000148773 ; RCV000182584 ; RCV000210181 ; RCV000499191 ; RCV000515232 ; RCV000586783 ; RCV001804750 ; RCV003153308 ; RCV003460494 ; RCV004528141
• dbSNP Id: rs79658334
• ExAC: 10:43614996 G / A
• gnomAD v2: 10-43614996-G-A
• gnomAD v3: 10-43119548-G-A
• gnomAD v4: 10-43119548-G-A
• MyVariant Identifiers: chr10:g.43614996G>A (hg19) ; chr10:g.43119548G>A (hg38)
• PubMed: PMID:87 ; PMID:100 ; PMID:619 ; PMID:741 ; PMID:978 ; PMID:3697657 ; PMID:7784092 ; PMID:8797874 ; PMID:9452077 ; PMID:10826520 ; PMID:11589684 ; PMID:11732489 ; PMID:11788682 ; PMID:11932300 ; PMID:12694233 ; PMID:15386323 ; PMID:15741265 ; PMID:20039896 ; PMID:21134561 ; PMID:21810974 ; PMID:23468374 ; PMID:23891399 ; PMID:24336963 ; PMID:24361808 ; PMID:25440022 ; PMID:25501606 ; PMID:25759805 ; PMID:25810047 ; PMID:26845104 ; PMID:27099842

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43119548G>A , CM000672.2:g.43119548G>A	GRCh38
NC_000010.10:g.43614996G>A , CM000672.1:g.43614996G>A	GRCh37
NC_000010.9:g.42935002G>A	NCBI36
NG_007489.1:g.47480G>A , LRG_518:g.47480G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.2014G>A	ENSP00000480088.2:p.Val672Met
ENST00000683007.1:n.1984G>A
ENST00000683872.1:n.1975G>A
ENST00000340058.6:c.2410G>A	ENSP00000344798.4:p.Val804Met
ENST00000355710.8:c.2410G>A MANE Select	ENSP00000347942.3:p.Val804Met
ENST00000671844.1:c.*1004G>A	ENSP00000500541.1:n.*1004G>A
ENST00000672389.1:c.*1004G>A	ENSP00000500252.1:n.*1004G>A
ENST00000340058.5:c.2410G>A	ENSP00000344798.4:p.Val804Met
ENST00000355710.7:c.2410G>A	ENSP00000347942.3:p.Val804Met
ENST00000615310.4:c.1290-154G>A	ENSP00000480088.1:n.1290-154G>A
NM_020630.4:c.2410G>A , LRG_518t2:c.2410G>A	NP_065681.1:p.Val804Met
NM_020975.4:c.2410G>A , LRG_518t1:c.2410G>A	NP_066124.1:p.Val804Met
XM_011540027.1:c.2410G>A	XP_011538329.1:p.Val804Met
NM_001355216.1:c.1648G>A	NP_001342145.1:p.Val550Met
NM_020630.5:c.2410G>A	NP_065681.1:p.Val804Met
NM_020975.5:c.2410G>A	NP_066124.1:p.Val804Met
NM_020975.6:c.2410G>A MANE Select	NP_066124.1:p.Val804Met
NM_020630.6:c.2410G>A	NP_065681.1:p.Val804Met