Canonical Allele Identifier: CA033797

Gene: RET

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43111412A>G , CM000672.2:g.43111412A>G	GRCh38
NC_000010.10:g.43606860A>G , CM000672.1:g.43606860A>G	GRCh37
NC_000010.9:g.42926866A>G	NCBI36
NG_007489.1:g.39344A>G , LRG_518:g.39344A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020975.6:c.1469A>G MANE Select	NP_066124.1:p.Gln490Arg
ENST00000355710.8:c.1469A>G MANE Select	ENSP00000347942.3:p.Gln490Arg
NM_001355216.1:c.707A>G	NP_001342145.1:p.Gln236Arg
NM_020630.4:c.1469A>G , LRG_518t2:c.1469A>G	NP_065681.1:p.Gln490Arg
NM_020630.5:c.1469A>G	NP_065681.1:p.Gln490Arg
NM_020630.6:c.1469A>G	NP_065681.1:p.Gln490Arg
NM_020975.4:c.1469A>G , LRG_518t1:c.1469A>G	NP_066124.1:p.Gln490Arg
NM_020975.5:c.1469A>G	NP_066124.1:p.Gln490Arg
ENST00000340058.5:c.1469A>G	ENSP00000344798.4:p.Gln490Arg
ENST00000340058.6:c.1469A>G	ENSP00000344798.4:p.Gln490Arg
ENST00000355710.7:c.1469A>G	ENSP00000347942.3:p.Gln490Arg
ENST00000498820.5:c.74-687A>G	ENSP00000419080.1:n.74-687A>G
ENST00000615310.4:c.1289+180A>G	ENSP00000480088.1:n.1289+180A>G
ENST00000615310.5:c.1073A>G	ENSP00000480088.2:p.Gln358Arg
ENST00000671844.1:c.*63A>G	ENSP00000500541.1:n.*63A>G
ENST00000672389.1:c.*63A>G	ENSP00000500252.1:n.*63A>G
ENST00000683007.1:n.1043A>G
ENST00000683872.1:n.230A>G
XM_011540027.1:c.1469A>G	XP_011538329.1:p.Gln490Arg