Canonical Allele Identifier: CA376547238
Community Standard Title: NM_020975.6(RET):c.1078C>T (p.Arg360Trp)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43109045C>T , CM000672.2:g.43109045C>T GRCh38
NC_000010.10:g.43604493C>T , CM000672.1:g.43604493C>T GRCh37
NC_000010.9:g.42924499C>T NCBI36
NG_007489.1:g.36977C>T , LRG_518:g.36977C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1078C>T MANE Select NP_066124.1:p.Arg360Trp
ENST00000355710.8:c.1078C>T MANE Select ENSP00000347942.3:p.Arg360Trp
NM_001355216.1:c.316C>T NP_001342145.1:p.Arg106Trp
NM_020630.4:c.1078C>T , LRG_518t2:c.1078C>T NP_065681.1:p.Arg360Trp
NM_020630.5:c.1078C>T NP_065681.1:p.Arg360Trp
NM_020630.6:c.1078C>T NP_065681.1:p.Arg360Trp
NM_020975.4:c.1078C>T , LRG_518t1:c.1078C>T NP_066124.1:p.Arg360Trp
NM_020975.5:c.1078C>T NP_066124.1:p.Arg360Trp
ENST00000340058.5:c.1078C>T ENSP00000344798.4:p.Arg360Trp
ENST00000340058.6:c.1078C>T ENSP00000344798.4:p.Arg360Trp
ENST00000355710.7:c.1078C>T ENSP00000347942.3:p.Arg360Trp
ENST00000498820.5:c.74-3054C>T ENSP00000419080.1:n.74-3054C>T
ENST00000615310.4:c.1078C>T ENSP00000480088.1:p.Arg360Trp
ENST00000615310.5:c.868-2162C>T ENSP00000480088.2:n.868-2162C>T
ENST00000671844.1:c.626-2162C>T ENSP00000500541.1:n.626-2162C>T
ENST00000672389.1:c.74-2162C>T ENSP00000500252.1:n.74-2162C>T
ENST00000683007.1:n.652C>T
XM_011540027.1:c.1078C>T XP_011538329.1:p.Arg360Trp