Canonical Allele Identifier: CA376556706
Community Standard Title: NM_020975.6(RET):c.2579A>C (p.Gln860Pro)
Gene: RET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.43119717A>C , CM000672.2:g.43119717A>C GRCh38
NC_000010.10:g.43615165A>C , CM000672.1:g.43615165A>C GRCh37
NC_000010.9:g.42935171A>C NCBI36
NG_007489.1:g.47649A>C , LRG_518:g.47649A>C

Transcript Alleles

HGVS Amino-acid Change
NM_020975.6:c.2579A>C MANE Select NP_066124.1:p.Gln860Pro
ENST00000355710.8:c.2579A>C MANE Select ENSP00000347942.3:p.Gln860Pro
NM_001355216.1:c.1817A>C NP_001342145.1:p.Gln606Pro
NM_020630.4:c.2579A>C , LRG_518t2:c.2579A>C NP_065681.1:p.Gln860Pro
NM_020630.5:c.2579A>C NP_065681.1:p.Gln860Pro
NM_020630.6:c.2579A>C NP_065681.1:p.Gln860Pro
NM_020975.4:c.2579A>C , LRG_518t1:c.2579A>C NP_066124.1:p.Gln860Pro
NM_020975.5:c.2579A>C NP_066124.1:p.Gln860Pro
ENST00000340058.5:c.2579A>C ENSP00000344798.4:p.Gln860Pro
ENST00000340058.6:c.2579A>C ENSP00000344798.4:p.Gln860Pro
ENST00000355710.7:c.2579A>C ENSP00000347942.3:p.Gln860Pro
ENST00000615310.4:c.1305A>C ENSP00000480088.1:p.Thr435=
ENST00000615310.5:c.2183A>C ENSP00000480088.2:p.Gln728Pro
ENST00000671844.1:c.*1173A>C ENSP00000500541.1:n.*1173A>C
ENST00000672389.1:c.*1173A>C ENSP00000500252.1:n.*1173A>C
ENST00000683007.1:n.2153A>C
ENST00000683872.1:n.2144A>C
XM_011540027.1:c.2579A>C XP_011538329.1:p.Gln860Pro