Canonical Allele Identifier: CA008602

Gene: RET

Linked Data

• ClinVar Variation Id: 187701
• ClinVar RCV Id: RCV000167451 ; RCV000409934 ; RCV000409277 ; RCV000654567 ; RCV000764899
• dbSNP Id: rs773256580
• ExAC: 10:43612120 C / T
• gnomAD v2: 10-43612120-C-T
• gnomAD v4: 10-43116672-C-T
• MyVariant Identifiers: chr10:g.43612120C>T (hg19) ; chr10:g.43116672C>T (hg38)
• PubMed: PMID:25425582

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43116672C>T , CM000672.2:g.43116672C>T	GRCh38
NC_000010.10:g.43612120C>T , CM000672.1:g.43612120C>T	GRCh37
NC_000010.9:g.42932126C>T	NCBI36
NG_007489.1:g.44604C>T , LRG_518:g.44604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1829C>T	ENSP00000480088.2:p.Thr610Met
ENST00000683007.1:n.1799C>T
ENST00000683872.1:n.1790C>T
ENST00000340058.6:c.2225C>T	ENSP00000344798.4:p.Thr742Met
ENST00000355710.8:c.2225C>T MANE Select	ENSP00000347942.3:p.Thr742Met
ENST00000671844.1:c.*819C>T	ENSP00000500541.1:n.*819C>T
ENST00000672389.1:c.*819C>T	ENSP00000500252.1:n.*819C>T
ENST00000340058.5:c.2225C>T	ENSP00000344798.4:p.Thr742Met
ENST00000355710.7:c.2225C>T	ENSP00000347942.3:p.Thr742Met
ENST00000615310.4:c.1290-3030C>T	ENSP00000480088.1:n.1290-3030C>T
NM_020630.4:c.2225C>T , LRG_518t2:c.2225C>T	NP_065681.1:p.Thr742Met
NM_020975.4:c.2225C>T , LRG_518t1:c.2225C>T	NP_066124.1:p.Thr742Met
XM_011540027.1:c.2225C>T	XP_011538329.1:p.Thr742Met
NM_001355216.1:c.1463C>T	NP_001342145.1:p.Thr488Met
NM_020630.5:c.2225C>T	NP_065681.1:p.Thr742Met
NM_020975.5:c.2225C>T	NP_066124.1:p.Thr742Met
NM_020975.6:c.2225C>T MANE Select	NP_066124.1:p.Thr742Met
NM_020630.6:c.2225C>T	NP_065681.1:p.Thr742Met