Canonical Allele Identifier: CA376553191
Community Standard Title: NM_020975.6(RET):c.2041C>T (p.Gln681Ter)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43114641C>T , CM000672.2:g.43114641C>T GRCh38
NC_000010.10:g.43610089C>T , CM000672.1:g.43610089C>T GRCh37
NC_000010.9:g.42930095C>T NCBI36
NG_007489.1:g.42573C>T , LRG_518:g.42573C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.2041C>T MANE Select NP_066124.1:p.Gln681Ter
ENST00000355710.8:c.2041C>T MANE Select ENSP00000347942.3:p.Gln681Ter
NM_001355216.1:c.1279C>T NP_001342145.1:p.Gln427Ter
NM_020630.4:c.2041C>T , LRG_518t2:c.2041C>T NP_065681.1:p.Gln681Ter
NM_020630.5:c.2041C>T NP_065681.1:p.Gln681Ter
NM_020630.6:c.2041C>T NP_065681.1:p.Gln681Ter
NM_020975.4:c.2041C>T , LRG_518t1:c.2041C>T NP_066124.1:p.Gln681Ter
NM_020975.5:c.2041C>T NP_066124.1:p.Gln681Ter
ENST00000340058.5:c.2041C>T ENSP00000344798.4:p.Gln681Ter
ENST00000340058.6:c.2041C>T ENSP00000344798.4:p.Gln681Ter
ENST00000355710.7:c.2041C>T ENSP00000347942.3:p.Gln681Ter
ENST00000615310.4:c.1289+3409C>T ENSP00000480088.1:n.1289+3409C>T
ENST00000615310.5:c.1645C>T ENSP00000480088.2:p.Gln549Ter
ENST00000671844.1:c.*635C>T ENSP00000500541.1:n.*635C>T
ENST00000672389.1:c.*635C>T ENSP00000500252.1:n.*635C>T
ENST00000683007.1:n.1615C>T
ENST00000683872.1:n.1606C>T
XM_011540027.1:c.2041C>T XP_011538329.1:p.Gln681Ter