Canonical Allele Identifier: CA033292
Community Standard Title: NM_020975.6(RET):c.1363G>A (p.Val455Ile)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43111306G>A , CM000672.2:g.43111306G>A GRCh38
NC_000010.10:g.43606754G>A , CM000672.1:g.43606754G>A GRCh37
NC_000010.9:g.42926760G>A NCBI36
NG_007489.1:g.39238G>A , LRG_518:g.39238G>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1363G>A MANE Select NP_066124.1:p.Val455Ile
ENST00000355710.8:c.1363G>A MANE Select ENSP00000347942.3:p.Val455Ile
NM_001355216.1:c.601G>A NP_001342145.1:p.Val201Ile
NM_020630.4:c.1363G>A , LRG_518t2:c.1363G>A NP_065681.1:p.Val455Ile
NM_020630.5:c.1363G>A NP_065681.1:p.Val455Ile
NM_020630.6:c.1363G>A NP_065681.1:p.Val455Ile
NM_020975.4:c.1363G>A , LRG_518t1:c.1363G>A NP_066124.1:p.Val455Ile
NM_020975.5:c.1363G>A NP_066124.1:p.Val455Ile
ENST00000340058.5:c.1363G>A ENSP00000344798.4:p.Val455Ile
ENST00000340058.6:c.1363G>A ENSP00000344798.4:p.Val455Ile
ENST00000355710.7:c.1363G>A ENSP00000347942.3:p.Val455Ile
ENST00000498820.5:c.74-793G>A ENSP00000419080.1:n.74-793G>A
ENST00000615310.4:c.1289+74G>A ENSP00000480088.1:n.1289+74G>A
ENST00000615310.5:c.967G>A ENSP00000480088.2:p.Val323Ile
ENST00000671844.1:c.725G>A ENSP00000500541.1:p.Gly242Asp
ENST00000672389.1:c.173G>A ENSP00000500252.1:p.Gly58Asp
ENST00000683007.1:n.937G>A
ENST00000683872.1:n.124G>A
XM_011540027.1:c.1363G>A XP_011538329.1:p.Val455Ile