Canonical Allele Identifier: CA370343882

Gene: DLC1

Linked Data

• ClinVar Variation Id: 2841958
• ClinVar RCV Id: RCV003721249
• MyVariant Identifiers: chr8:g.12956066G>C (hg19) ; chr8:g.13098557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.13098557G>C , CM000670.2:g.13098557G>C	GRCh38
NC_000008.10:g.12956066G>C , CM000670.1:g.12956066G>C	GRCh37
NC_000008.9:g.13000437G>C	NCBI36
NG_015998.1:g.421364C>G
NG_015998.2:g.511049C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276297.9:c.3009C>G MANE Select	ENSP00000276297.4:p.His1003Gln
ENST00000276297.8:c.3009C>G	ENSP00000276297.4:p.His1003Gln
ENST00000358919.6:c.1698C>G	ENSP00000351797.2:p.His566Gln
ENST00000510250.2:n.1578C>G
ENST00000512044.6:c.1800C>G	ENSP00000422595.2:p.His600Gln
ENST00000520226.5:c.1476C>G	ENSP00000428028.1:p.His492Gln
NM_001164271.1:c.1476C>G	NP_001157743.1:p.His492Gln
NM_001316668.1:c.1800C>G	NP_001303597.1:p.His600Gln
NM_006094.4:c.1698C>G	NP_006085.2:p.His566Gln
NM_182643.2:c.3009C>G	NP_872584.2:p.His1003Gln
XM_005273374.1:c.3009C>G	XP_005273431.1:p.His1003Gln
NM_001348081.1:c.3009C>G	NP_001335010.1:p.His1003Gln
NM_001348082.1:c.1476C>G	NP_001335011.1:p.His492Gln
NM_001348083.1:c.1476C>G	NP_001335012.1:p.His492Gln
NM_001348084.1:c.1476C>G	NP_001335013.1:p.His492Gln
NM_182643.3:c.3009C>G MANE Select	NP_872584.2:p.His1003Gln
NM_001316668.2:c.1800C>G	NP_001303597.1:p.His600Gln
NM_001348081.2:c.3009C>G	NP_001335010.1:p.His1003Gln
NM_001348082.2:c.1476C>G	NP_001335011.1:p.His492Gln
NM_001348084.2:c.1476C>G	NP_001335013.1:p.His492Gln
NM_006094.5:c.1698C>G	NP_006085.2:p.His566Gln
NM_001164271.2:c.1476C>G	NP_001157743.1:p.His492Gln