Canonical Allele Identifier: CA376552823
Community Standard Title: NM_020975.6(RET):c.1860C>A (p.Cys620Ter)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43113656C>A , CM000672.2:g.43113656C>A GRCh38
NC_000010.10:g.43609104C>A , CM000672.1:g.43609104C>A GRCh37
NC_000010.9:g.42929110C>A NCBI36
NG_007489.1:g.41588C>A , LRG_518:g.41588C>A

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.1860C>A MANE Select NP_066124.1:p.Cys620Ter
ENST00000355710.8:c.1860C>A MANE Select ENSP00000347942.3:p.Cys620Ter
NM_001355216.1:c.1098C>A NP_001342145.1:p.Cys366Ter
NM_020630.4:c.1860C>A , LRG_518t2:c.1860C>A NP_065681.1:p.Cys620Ter
NM_020630.5:c.1860C>A NP_065681.1:p.Cys620Ter
NM_020630.6:c.1860C>A NP_065681.1:p.Cys620Ter
NM_020975.4:c.1860C>A , LRG_518t1:c.1860C>A NP_066124.1:p.Cys620Ter
NM_020975.5:c.1860C>A NP_066124.1:p.Cys620Ter
ENST00000340058.5:c.1860C>A ENSP00000344798.4:p.Cys620Ter
ENST00000340058.6:c.1860C>A ENSP00000344798.4:p.Cys620Ter
ENST00000355710.7:c.1860C>A ENSP00000347942.3:p.Cys620Ter
ENST00000498820.5:c.411C>A ENSP00000419080.1:p.Cys137Ter
ENST00000615310.4:c.1289+2424C>A ENSP00000480088.1:n.1289+2424C>A
ENST00000615310.5:c.1464C>A ENSP00000480088.2:p.Cys488Ter
ENST00000671844.1:c.*454C>A ENSP00000500541.1:n.*454C>A
ENST00000672389.1:c.*454C>A ENSP00000500252.1:n.*454C>A
ENST00000683007.1:n.1434C>A
ENST00000683872.1:n.621C>A
XM_011540027.1:c.1860C>A XP_011538329.1:p.Cys620Ter