Canonical Allele Identifier: CA4637920

Gene: DLC1

Linked Data

• ClinVar Variation Id: 2074937
• ClinVar RCV Id: RCV002963154 ; RCV003943681
• dbSNP Id: rs199783855
• ExAC: 8:12943795 A / T
• gnomAD v2: 8-12943795-A-T
• gnomAD v3: 8-13086286-A-T
• gnomAD v4: 8-13086286-A-T
• MyVariant Identifiers: chr8:g.12943795A>T (hg19) ; chr8:g.13086286A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.13086286A>T , CM000670.2:g.13086286A>T	GRCh38
NC_000008.10:g.12943795A>T , CM000670.1:g.12943795A>T	GRCh37
NC_000008.9:g.12988166A>T	NCBI36
NG_015998.1:g.433635T>A
NG_015998.2:g.523320T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276297.9:c.4466+4T>A MANE Select	ENSP00000276297.4:n.4466+4T>A
ENST00000276297.8:c.4466+4T>A	ENSP00000276297.4:n.4466+4T>A
ENST00000358919.6:c.3155+4T>A	ENSP00000351797.2:n.3155+4T>A
ENST00000510318.5:n.1651+4T>A
ENST00000512044.6:c.3257+4T>A	ENSP00000422595.2:n.3257+4T>A
ENST00000520226.5:c.2933+4T>A	ENSP00000428028.1:n.2933+4T>A
ENST00000521730.1:n.431T>A
NM_001164271.1:c.2933+4T>A	NP_001157743.1:n.2933+4T>A
NM_001316668.1:c.3257+4T>A	NP_001303597.1:n.3257+4T>A
NM_006094.4:c.3155+4T>A	NP_006085.2:n.3155+4T>A
NM_182643.2:c.4466+4T>A	NP_872584.2:n.4466+4T>A
XM_005273374.1:c.4466+4T>A	XP_005273431.1:n.4466+4T>A
NM_001348081.1:c.4466+4T>A	NP_001335010.1:n.4466+4T>A
NM_001348082.1:c.2933+4T>A	NP_001335011.1:n.2933+4T>A
NM_001348083.1:c.2933+4T>A	NP_001335012.1:n.2933+4T>A
NM_001348084.1:c.2933+4T>A	NP_001335013.1:n.2933+4T>A
NM_182643.3:c.4466+4T>A MANE Select	NP_872584.2:n.4466+4T>A
NM_001316668.2:c.3257+4T>A	NP_001303597.1:n.3257+4T>A
NM_001348081.2:c.4466+4T>A	NP_001335010.1:n.4466+4T>A
NM_001348082.2:c.2933+4T>A	NP_001335011.1:n.2933+4T>A
NM_001348084.2:c.2933+4T>A	NP_001335013.1:n.2933+4T>A
NM_006094.5:c.3155+4T>A	NP_006085.2:n.3155+4T>A
NM_001164271.2:c.2933+4T>A	NP_001157743.1:n.2933+4T>A