Canonical Allele Identifier: CA206262326

Gene: RET

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43113567G>A , CM000672.2:g.43113567G>A	GRCh38
NC_000010.10:g.43609015G>A , CM000672.1:g.43609015G>A	GRCh37
NC_000010.9:g.42929021G>A	NCBI36
NG_007489.1:g.41499G>A , LRG_518:g.41499G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020975.6:c.1771G>A MANE Select	NP_066124.1:p.Val591Ile
ENST00000355710.8:c.1771G>A MANE Select	ENSP00000347942.3:p.Val591Ile
NM_001355216.1:c.1009G>A	NP_001342145.1:p.Val337Ile
NM_020630.4:c.1771G>A , LRG_518t2:c.1771G>A	NP_065681.1:p.Val591Ile
NM_020630.5:c.1771G>A	NP_065681.1:p.Val591Ile
NM_020630.6:c.1771G>A	NP_065681.1:p.Val591Ile
NM_020975.4:c.1771G>A , LRG_518t1:c.1771G>A	NP_066124.1:p.Val591Ile
NM_020975.5:c.1771G>A	NP_066124.1:p.Val591Ile
ENST00000340058.5:c.1771G>A	ENSP00000344798.4:p.Val591Ile
ENST00000340058.6:c.1771G>A	ENSP00000344798.4:p.Val591Ile
ENST00000355710.7:c.1771G>A	ENSP00000347942.3:p.Val591Ile
ENST00000498820.5:c.322G>A	ENSP00000419080.1:p.Val108Ile
ENST00000615310.4:c.1289+2335G>A	ENSP00000480088.1:n.1289+2335G>A
ENST00000615310.5:c.1375G>A	ENSP00000480088.2:p.Val459Ile
ENST00000671844.1:c.*365G>A	ENSP00000500541.1:n.*365G>A
ENST00000672389.1:c.*365G>A	ENSP00000500252.1:n.*365G>A
ENST00000683007.1:n.1345G>A
ENST00000683872.1:n.532G>A
XM_011540027.1:c.1771G>A	XP_011538329.1:p.Val591Ile