Canonical Allele Identifier: CA008487

Gene: RET

Linked Data

• ClinVar Variation Id: 24929
• ClinVar RCV Id: RCV000498649 ; RCV000821103 ; RCV000762808 ; RCV001353180 ; RCV002408474
• dbSNP Id: rs377767412
• gnomAD v2: 10-43609995-G-A
• gnomAD v4: 10-43114547-G-A
• MyVariant Identifiers: chr10:g.43609995G>A (hg19) ; chr10:g.43114547G>A (hg38)
• PubMed: PMID:8 ; PMID:80 ; PMID:100 ; PMID:569 ; PMID:896 ; PMID:909 ; PMID:8896569

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43114547G>A , CM000672.2:g.43114547G>A	GRCh38
NC_000010.10:g.43609995G>A , CM000672.1:g.43609995G>A	GRCh37
NC_000010.9:g.42930001G>A	NCBI36
NG_007489.1:g.42479G>A , LRG_518:g.42479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000615310.5:c.1551G>A	ENSP00000480088.2:p.Ser517=
ENST00000683007.1:n.1521G>A
ENST00000683872.1:n.1512G>A
ENST00000340058.6:c.1947G>A	ENSP00000344798.4:p.Ser649=
ENST00000355710.8:c.1947G>A MANE Select	ENSP00000347942.3:p.Ser649=
ENST00000671844.1:c.*541G>A	ENSP00000500541.1:n.*541G>A
ENST00000672389.1:c.*541G>A	ENSP00000500252.1:n.*541G>A
ENST00000340058.5:c.1947G>A	ENSP00000344798.4:p.Ser649=
ENST00000355710.7:c.1947G>A	ENSP00000347942.3:p.Ser649=
ENST00000498820.5:c.498G>A	ENSP00000419080.1:p.Ser166=
ENST00000615310.4:c.1289+3315G>A	ENSP00000480088.1:n.1289+3315G>A
NM_020630.4:c.1947G>A , LRG_518t2:c.1947G>A	NP_065681.1:p.Ser649=
NM_020975.4:c.1947G>A , LRG_518t1:c.1947G>A	NP_066124.1:p.Ser649=
XM_011540027.1:c.1947G>A	XP_011538329.1:p.Ser649=
NM_001355216.1:c.1185G>A	NP_001342145.1:p.Ser395=
NM_020630.5:c.1947G>A	NP_065681.1:p.Ser649=
NM_020975.5:c.1947G>A	NP_066124.1:p.Ser649=
NM_020975.6:c.1947G>A MANE Select	NP_066124.1:p.Ser649=
NM_020630.6:c.1947G>A	NP_065681.1:p.Ser649=