Canonical Allele Identifier: CA250532
Gene: DLC1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13099462T>C , CM000670.2:g.13099462T>C GRCh38
NC_000008.10:g.12956971T>C , CM000670.1:g.12956971T>C GRCh37
NC_000008.9:g.13001342T>C NCBI36
NG_015998.1:g.420459A>G
NG_015998.2:g.510144A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276297.9:c.2875A>G MANE Select ENSP00000276297.4:p.Thr959Ala
ENST00000276297.8:c.2875A>G ENSP00000276297.4:p.Thr959Ala
ENST00000358919.6:c.1564A>G ENSP00000351797.2:p.Thr522Ala
ENST00000510250.2:n.1444A>G
ENST00000512044.6:c.1666A>G ENSP00000422595.2:p.Thr556Ala
ENST00000520226.5:c.1342A>G ENSP00000428028.1:p.Thr448Ala
NM_001164271.1:c.1342A>G NP_001157743.1:p.Thr448Ala
NM_001316668.1:c.1666A>G NP_001303597.1:p.Thr556Ala
NM_006094.4:c.1564A>G NP_006085.2:p.Thr522Ala
NM_182643.2:c.2875A>G NP_872584.2:p.Thr959Ala
XM_005273374.1:c.2875A>G XP_005273431.1:p.Thr959Ala
NM_001348081.1:c.2875A>G NP_001335010.1:p.Thr959Ala
NM_001348082.1:c.1342A>G NP_001335011.1:p.Thr448Ala
NM_001348083.1:c.1342A>G NP_001335012.1:p.Thr448Ala
NM_001348084.1:c.1342A>G NP_001335013.1:p.Thr448Ala
NM_182643.3:c.2875A>G MANE Select NP_872584.2:p.Thr959Ala
NM_001316668.2:c.1666A>G NP_001303597.1:p.Thr556Ala
NM_001348081.2:c.2875A>G NP_001335010.1:p.Thr959Ala
NM_001348082.2:c.1342A>G NP_001335011.1:p.Thr448Ala
NM_001348084.2:c.1342A>G NP_001335013.1:p.Thr448Ala
NM_006094.5:c.1564A>G NP_006085.2:p.Thr522Ala
NM_001164271.2:c.1342A>G NP_001157743.1:p.Thr448Ala