Canonical Allele Identifier: CA12752992
Gene: DLC1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.13086182C>T
GRCh37 chr8:g.12943691C>T
gnomAD v2:
8:12943691 C / T
gnomAD v3:
8:13086182 C / T
gnomAD v4:
chr8-13086182-C-T
Joint Max Group AF 0.62545745 (SAS)
Genomes Max Group AF 0.61941894 (SAS)
Exomes Max Group AF 0.62471406 (SAS)
ClinVar RCV:
RCV001598230
ClinVar Variation:
1222600
dbSNP:
621554
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13086182C>T , CM000670.2:g.13086182C>T GRCh38
NC_000008.10:g.12943691C>T , CM000670.1:g.12943691C>T GRCh37
NC_000008.9:g.12988062C>T NCBI36
NG_015998.1:g.433739G>A
NG_015998.2:g.523424G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276297.9:c.4466+108G>A MANE Select ENSP00000276297.4:n.4466+108G>A
ENST00000276297.8:c.4466+108G>A ENSP00000276297.4:n.4466+108G>A
ENST00000358919.6:c.3155+108G>A ENSP00000351797.2:n.3155+108G>A
ENST00000510318.5:n.1651+108G>A
ENST00000512044.6:c.3257+108G>A ENSP00000422595.2:n.3257+108G>A
ENST00000520226.5:c.2933+108G>A ENSP00000428028.1:n.2933+108G>A
NM_001164271.1:c.2933+108G>A NP_001157743.1:n.2933+108G>A
NM_001316668.1:c.3257+108G>A NP_001303597.1:n.3257+108G>A
NM_006094.4:c.3155+108G>A NP_006085.2:n.3155+108G>A
NM_182643.2:c.4466+108G>A NP_872584.2:n.4466+108G>A
XM_005273374.1:c.4466+108G>A XP_005273431.1:n.4466+108G>A
NM_001348081.1:c.4466+108G>A NP_001335010.1:n.4466+108G>A
NM_001348082.1:c.2933+108G>A NP_001335011.1:n.2933+108G>A
NM_001348083.1:c.2933+108G>A NP_001335012.1:n.2933+108G>A
NM_001348084.1:c.2933+108G>A NP_001335013.1:n.2933+108G>A
NM_182643.3:c.4466+108G>A MANE Select NP_872584.2:n.4466+108G>A
NM_001316668.2:c.3257+108G>A NP_001303597.1:n.3257+108G>A
NM_001348081.2:c.4466+108G>A NP_001335010.1:n.4466+108G>A
NM_001348082.2:c.2933+108G>A NP_001335011.1:n.2933+108G>A
NM_001348084.2:c.2933+108G>A NP_001335013.1:n.2933+108G>A
NM_006094.5:c.3155+108G>A NP_006085.2:n.3155+108G>A
NM_001164271.2:c.2933+108G>A NP_001157743.1:n.2933+108G>A
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