Canonical Allele Identifier: CA4639403
Community Standard Title: NM_182643.3(DLC1):c.779C>T (p.Thr260Ile)
Gene: DLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13499293G>A , CM000670.2:g.13499293G>A GRCh38
NC_000008.10:g.13356802G>A , CM000670.1:g.13356802G>A GRCh37
NC_000008.9:g.13401173G>A NCBI36
NG_015998.1:g.20628C>T
NG_015998.2:g.110313C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182643.3:c.779C>T MANE Select NP_872584.2:p.Thr260Ile
ENST00000276297.9:c.779C>T MANE Select ENSP00000276297.4:p.Thr260Ile
NM_001348081.1:c.779C>T NP_001335010.1:p.Thr260Ile
NM_001348081.2:c.779C>T NP_001335010.1:p.Thr260Ile
NM_001348082.1:c.-673C>T NP_001335011.1:n.-673C>T
NM_001348082.2:c.-673C>T NP_001335011.1:n.-673C>T
NM_024767.3:c.779C>T NP_079043.3:p.Thr260Ile
NM_024767.4:c.779C>T NP_079043.3:p.Thr260Ile
NM_024767.5:c.779C>T NP_079043.3:p.Thr260Ile
NM_182643.2:c.779C>T NP_872584.2:p.Thr260Ile
ENST00000276297.8:c.779C>T ENSP00000276297.4:p.Thr260Ile
ENST00000316609.9:c.779C>T ENSP00000321034.5:p.Thr260Ile
ENST00000511869.1:c.779C>T ENSP00000425878.1:p.Thr260Ile
XM_005273374.1:c.779C>T XP_005273431.1:p.Thr260Ile