Canonical Allele Identifier: CA469031373

Gene: RET

Linked Data

• ClinVar Variation Id: 1798084
• ClinVar RCV Id: RCV002441898
• dbSNP Id: rs2133016137
• gnomAD v4: 10-43124896-C-T
• MyVariant Identifiers: chr10:g.43620344C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43124896C>T , CM000672.2:g.43124896C>T	GRCh38
NC_000010.10:g.43620344C>T , CM000672.1:g.43620344C>T	GRCh37
NC_000010.9:g.42940350C>T	NCBI36
NG_007489.1:g.52828C>T , LRG_518:g.52828C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000615310.5:c.2557C>T	ENSP00000480088.2:p.Leu853=
ENST00000683007.1:n.2527C>T
ENST00000340058.6:c.2953C>T	ENSP00000344798.4:p.Leu985=
ENST00000355710.8:c.2953C>T MANE Select	ENSP00000347942.3:p.Leu985=
ENST00000671844.1:c.*1547C>T	ENSP00000500541.1:n.*1547C>T
ENST00000672389.1:c.*1547C>T	ENSP00000500252.1:n.*1547C>T
ENST00000340058.5:c.2953C>T	ENSP00000344798.4:p.Leu985=
ENST00000355710.7:c.2953C>T	ENSP00000347942.3:p.Leu985=
ENST00000615310.4:c.*302C>T	ENSP00000480088.1:n.*302C>T
NM_020630.4:c.2953C>T , LRG_518t2:c.2953C>T	NP_065681.1:p.Leu985=
NM_020975.4:c.2953C>T , LRG_518t1:c.2953C>T	NP_066124.1:p.Leu985=
XM_011540027.1:c.2953C>T	XP_011538329.1:p.Leu985=
NM_001355216.1:c.2191C>T	NP_001342145.1:p.Leu731=
NM_020630.5:c.2953C>T	NP_065681.1:p.Leu985=
NM_020975.5:c.2953C>T	NP_066124.1:p.Leu985=
NM_020975.6:c.2953C>T MANE Select	NP_066124.1:p.Leu985=
NM_020630.6:c.2953C>T	NP_065681.1:p.Leu985=