Canonical Allele Identifier: CA376549719

Gene: RET

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43111399G>T , CM000672.2:g.43111399G>T	GRCh38
NC_000010.10:g.43606847G>T , CM000672.1:g.43606847G>T	GRCh37
NC_000010.9:g.42926853G>T	NCBI36
NG_007489.1:g.39331G>T , LRG_518:g.39331G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020975.6:c.1456G>T MANE Select	NP_066124.1:p.Val486Leu
ENST00000355710.8:c.1456G>T MANE Select	ENSP00000347942.3:p.Val486Leu
NM_001355216.1:c.694G>T	NP_001342145.1:p.Val232Leu
NM_020630.4:c.1456G>T , LRG_518t2:c.1456G>T	NP_065681.1:p.Val486Leu
NM_020630.5:c.1456G>T	NP_065681.1:p.Val486Leu
NM_020630.6:c.1456G>T	NP_065681.1:p.Val486Leu
NM_020975.4:c.1456G>T , LRG_518t1:c.1456G>T	NP_066124.1:p.Val486Leu
NM_020975.5:c.1456G>T	NP_066124.1:p.Val486Leu
ENST00000340058.5:c.1456G>T	ENSP00000344798.4:p.Val486Leu
ENST00000340058.6:c.1456G>T	ENSP00000344798.4:p.Val486Leu
ENST00000355710.7:c.1456G>T	ENSP00000347942.3:p.Val486Leu
ENST00000498820.5:c.74-700G>T	ENSP00000419080.1:n.74-700G>T
ENST00000615310.4:c.1289+167G>T	ENSP00000480088.1:n.1289+167G>T
ENST00000615310.5:c.1060G>T	ENSP00000480088.2:p.Val354Leu
ENST00000671844.1:c.*50G>T	ENSP00000500541.1:n.*50G>T
ENST00000672389.1:c.*50G>T	ENSP00000500252.1:n.*50G>T
ENST00000683007.1:n.1030G>T
ENST00000683872.1:n.217G>T
XM_011540027.1:c.1456G>T	XP_011538329.1:p.Val486Leu