Canonical Allele Identifier: CA007702

Gene: RET

Linked Data

• ClinVar Variation Id: 36723
• ClinVar RCV Id: RCV000034766 ; RCV000030402 ; RCV000121985 ; RCV000202649 ; RCV000163266 ; RCV000148768 ; RCV001082759 ; RCV001108849 ; RCV001108851 ; RCV001108850
• dbSNP Id: rs145633958
• ExAC: 10:43595999 C / A
• gnomAD v2: 10-43595999-C-A
• gnomAD v3: 10-43100551-C-A
• gnomAD v4: 10-43100551-C-A
• MyVariant Identifiers: chr10:g.43595999C>A (hg19) ; chr10:g.43100551C>A (hg38)
• PubMed: PMID:10790203 ; PMID:20473317 ; PMID:21490379 ; PMID:22648184 ; PMID:22703879 ; PMID:22995991 ; PMID:24055113 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43100551C>A , CM000672.2:g.43100551C>A	GRCh38
NC_000010.10:g.43595999C>A , CM000672.1:g.43595999C>A	GRCh37
NC_000010.9:g.42916005C>A	NCBI36
NG_007489.1:g.28483C>A , LRG_518:g.28483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.166C>A	ENSP00000480088.2:p.Leu56Met
ENST00000683278.1:c.68C>A
ENST00000684216.1:c.68C>A
ENST00000340058.6:c.166C>A	ENSP00000344798.4:p.Leu56Met
ENST00000355710.8:c.166C>A MANE Select	ENSP00000347942.3:p.Leu56Met
ENST00000638465.1:c.68C>A
ENST00000640619.1:c.68C>A
ENST00000671844.1:c.166C>A	ENSP00000500541.1:p.Leu56Met
ENST00000672389.1:c.74-10656C>A	ENSP00000500252.1:n.74-10656C>A
ENST00000340058.5:c.166C>A	ENSP00000344798.4:p.Leu56Met
ENST00000355710.7:c.166C>A	ENSP00000347942.3:p.Leu56Met
ENST00000498820.5:c.74-11548C>A	ENSP00000419080.1:n.74-11548C>A
ENST00000615310.4:c.166C>A	ENSP00000480088.1:p.Leu56Met
NM_020630.4:c.166C>A , LRG_518t2:c.166C>A	NP_065681.1:p.Leu56Met
NM_020975.4:c.166C>A , LRG_518t1:c.166C>A	NP_066124.1:p.Leu56Met
XM_011540027.1:c.166C>A	XP_011538329.1:p.Leu56Met
NM_020630.5:c.166C>A	NP_065681.1:p.Leu56Met
NM_020975.5:c.166C>A	NP_066124.1:p.Leu56Met
NM_020975.6:c.166C>A MANE Select	NP_066124.1:p.Leu56Met
NM_020630.6:c.166C>A	NP_065681.1:p.Leu56Met