Canonical Allele Identifier: CA007571

Gene: RET

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43111367G>A , CM000672.2:g.43111367G>A	GRCh38
NC_000010.10:g.43606815G>A , CM000672.1:g.43606815G>A	GRCh37
NC_000010.9:g.42926821G>A	NCBI36
NG_007489.1:g.39299G>A , LRG_518:g.39299G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020975.6:c.1424G>A MANE Select	NP_066124.1:p.Arg475Gln
ENST00000355710.8:c.1424G>A MANE Select	ENSP00000347942.3:p.Arg475Gln
NM_001355216.1:c.662G>A	NP_001342145.1:p.Arg221Gln
NM_020630.4:c.1424G>A , LRG_518t2:c.1424G>A	NP_065681.1:p.Arg475Gln
NM_020630.5:c.1424G>A	NP_065681.1:p.Arg475Gln
NM_020630.6:c.1424G>A	NP_065681.1:p.Arg475Gln
NM_020975.4:c.1424G>A , LRG_518t1:c.1424G>A	NP_066124.1:p.Arg475Gln
NM_020975.5:c.1424G>A	NP_066124.1:p.Arg475Gln
ENST00000340058.5:c.1424G>A	ENSP00000344798.4:p.Arg475Gln
ENST00000340058.6:c.1424G>A	ENSP00000344798.4:p.Arg475Gln
ENST00000355710.7:c.1424G>A	ENSP00000347942.3:p.Arg475Gln
ENST00000498820.5:c.74-732G>A	ENSP00000419080.1:n.74-732G>A
ENST00000615310.4:c.1289+135G>A	ENSP00000480088.1:n.1289+135G>A
ENST00000615310.5:c.1028G>A	ENSP00000480088.2:p.Arg343Gln
ENST00000671844.1:c.*18G>A	ENSP00000500541.1:n.*18G>A
ENST00000672389.1:c.*18G>A	ENSP00000500252.1:n.*18G>A
ENST00000683007.1:n.998G>A
ENST00000683872.1:n.185G>A
XM_011540027.1:c.1424G>A	XP_011538329.1:p.Arg475Gln