Canonical Allele Identifier: CA044589

Gene: RET

Linked Data

• ClinVar Variation Id: 477383
• ClinVar RCV Id: RCV000533533 ; RCV000565358 ; RCV001103894 ; RCV001103892 ; RCV001103893 ; RCV001103895
• dbSNP Id: rs375120544
• ExAC: 10:43600492 G / C
• gnomAD v2: 10-43600492-G-C
• gnomAD v3: 10-43105044-G-C
• gnomAD v4: 10-43105044-G-C
• MyVariant Identifiers: chr10:g.43600492G>C (hg19) ; chr10:g.43105044G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43105044G>C , CM000672.2:g.43105044G>C	GRCh38
NC_000010.10:g.43600492G>C , CM000672.1:g.43600492G>C	GRCh37
NC_000010.9:g.42920498G>C	NCBI36
NG_007489.1:g.32976G>C , LRG_518:g.32976G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.718G>C	ENSP00000480088.2:p.Val240Leu
ENST00000683007.1:n.292G>C
ENST00000340058.6:c.718G>C	ENSP00000344798.4:p.Val240Leu
ENST00000355710.8:c.718G>C MANE Select	ENSP00000347942.3:p.Val240Leu
ENST00000671844.1:c.625+2415G>C	ENSP00000500541.1:n.625+2415G>C
ENST00000672389.1:c.74-6163G>C	ENSP00000500252.1:n.74-6163G>C
ENST00000340058.5:c.718G>C	ENSP00000344798.4:p.Val240Leu
ENST00000355710.7:c.718G>C	ENSP00000347942.3:p.Val240Leu
ENST00000479913.1:n.313G>C
ENST00000498820.5:c.74-7055G>C	ENSP00000419080.1:n.74-7055G>C
ENST00000615310.4:c.718G>C	ENSP00000480088.1:p.Val240Leu
NM_020630.4:c.718G>C , LRG_518t2:c.718G>C	NP_065681.1:p.Val240Leu
NM_020975.4:c.718G>C , LRG_518t1:c.718G>C	NP_066124.1:p.Val240Leu
XM_011540027.1:c.718G>C	XP_011538329.1:p.Val240Leu
NM_001355216.1:c.-45G>C	NP_001342145.1:n.-45G>C
NM_020630.5:c.718G>C	NP_065681.1:p.Val240Leu
NM_020975.5:c.718G>C	NP_066124.1:p.Val240Leu
NM_020975.6:c.718G>C MANE Select	NP_066124.1:p.Val240Leu
NM_020630.6:c.718G>C	NP_065681.1:p.Val240Leu