Canonical Allele Identifier: CA370338139

Gene: DLC1

Linked Data

• ClinVar Variation Id: 2011608
• ClinVar RCV Id: RCV002838539
• gnomAD v4: 8-13085893-T-C
• MyVariant Identifiers: chr8:g.12943402T>C (hg19) ; chr8:g.13085893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.13085893T>C , CM000670.2:g.13085893T>C	GRCh38
NC_000008.10:g.12943402T>C , CM000670.1:g.12943402T>C	GRCh37
NC_000008.9:g.12987773T>C	NCBI36
NG_015998.1:g.434028A>G
NG_015998.2:g.523713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276297.9:c.4505A>G MANE Select	ENSP00000276297.4:p.His1502Arg
ENST00000276297.8:c.4505A>G	ENSP00000276297.4:p.His1502Arg
ENST00000358919.6:c.3194A>G	ENSP00000351797.2:p.His1065Arg
ENST00000510318.5:n.1690A>G
ENST00000512044.6:c.3296A>G	ENSP00000422595.2:p.His1099Arg
ENST00000520226.5:c.2972A>G	ENSP00000428028.1:p.His991Arg
NM_001164271.1:c.2972A>G	NP_001157743.1:p.His991Arg
NM_001316668.1:c.3296A>G	NP_001303597.1:p.His1099Arg
NM_006094.4:c.3194A>G	NP_006085.2:p.His1065Arg
NM_182643.2:c.4505A>G	NP_872584.2:p.His1502Arg
XM_005273374.1:c.4505A>G	XP_005273431.1:p.His1502Arg
NM_001348081.1:c.4505A>G	NP_001335010.1:p.His1502Arg
NM_001348082.1:c.2972A>G	NP_001335011.1:p.His991Arg
NM_001348083.1:c.2972A>G	NP_001335012.1:p.His991Arg
NM_001348084.1:c.2972A>G	NP_001335013.1:p.His991Arg
NM_182643.3:c.4505A>G MANE Select	NP_872584.2:p.His1502Arg
NM_001316668.2:c.3296A>G	NP_001303597.1:p.His1099Arg
NM_001348081.2:c.4505A>G	NP_001335010.1:p.His1502Arg
NM_001348082.2:c.2972A>G	NP_001335011.1:p.His991Arg
NM_001348084.2:c.2972A>G	NP_001335013.1:p.His991Arg
NM_006094.5:c.3194A>G	NP_006085.2:p.His1065Arg
NM_001164271.2:c.2972A>G	NP_001157743.1:p.His991Arg