Canonical Allele Identifier: CA039848
Community Standard Title: NM_020975.6(RET):c.2601G>T (p.Glu867Asp)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43119739G>T , CM000672.2:g.43119739G>T GRCh38
NC_000010.10:g.43615187G>T , CM000672.1:g.43615187G>T GRCh37
NC_000010.9:g.42935193G>T NCBI36
NG_007489.1:g.47671G>T , LRG_518:g.47671G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.2601G>T MANE Select NP_066124.1:p.Glu867Asp
ENST00000355710.8:c.2601G>T MANE Select ENSP00000347942.3:p.Glu867Asp
NM_001355216.1:c.1839G>T NP_001342145.1:p.Glu613Asp
NM_020630.4:c.2601G>T , LRG_518t2:c.2601G>T NP_065681.1:p.Glu867Asp
NM_020630.5:c.2601G>T NP_065681.1:p.Glu867Asp
NM_020630.6:c.2601G>T NP_065681.1:p.Glu867Asp
NM_020975.4:c.2601G>T , LRG_518t1:c.2601G>T NP_066124.1:p.Glu867Asp
NM_020975.5:c.2601G>T NP_066124.1:p.Glu867Asp
ENST00000340058.5:c.2601G>T ENSP00000344798.4:p.Glu867Asp
ENST00000340058.6:c.2601G>T ENSP00000344798.4:p.Glu867Asp
ENST00000355710.7:c.2601G>T ENSP00000347942.3:p.Glu867Asp
ENST00000615310.4:c.1327G>T ENSP00000480088.1:p.Asp443Tyr
ENST00000615310.5:c.2205G>T ENSP00000480088.2:p.Glu735Asp
ENST00000671844.1:c.*1195G>T ENSP00000500541.1:n.*1195G>T
ENST00000672389.1:c.*1195G>T ENSP00000500252.1:n.*1195G>T
ENST00000683007.1:n.2175G>T
ENST00000683872.1:n.2166G>T
XM_011540027.1:c.2601G>T XP_011538329.1:p.Glu867Asp