Canonical Allele Identifier: CA2697549751
Gene: DLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2704357
ClinVar RCV Id: RCV003572924

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13086281A>G , CM000670.2:g.13086281A>G GRCh38
NC_000008.10:g.12943790A>G , CM000670.1:g.12943790A>G GRCh37
NC_000008.9:g.12988161A>G NCBI36
NG_015998.1:g.433640T>C
NG_015998.2:g.523325T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000276297.9:c.4466+9T>C MANE Select ENSP00000276297.4:n.4466+9T>C
ENST00000276297.8:c.4466+9T>C ENSP00000276297.4:n.4466+9T>C
ENST00000358919.6:c.3155+9T>C ENSP00000351797.2:n.3155+9T>C
ENST00000510318.5:n.1651+9T>C
ENST00000512044.6:c.3257+9T>C ENSP00000422595.2:n.3257+9T>C
ENST00000520226.5:c.2933+9T>C ENSP00000428028.1:n.2933+9T>C
ENST00000521730.1:n.436T>C
NM_001164271.1:c.2933+9T>C NP_001157743.1:n.2933+9T>C
NM_001316668.1:c.3257+9T>C NP_001303597.1:n.3257+9T>C
NM_006094.4:c.3155+9T>C NP_006085.2:n.3155+9T>C
NM_182643.2:c.4466+9T>C NP_872584.2:n.4466+9T>C
XM_005273374.1:c.4466+9T>C XP_005273431.1:n.4466+9T>C
NM_001348081.1:c.4466+9T>C NP_001335010.1:n.4466+9T>C
NM_001348082.1:c.2933+9T>C NP_001335011.1:n.2933+9T>C
NM_001348083.1:c.2933+9T>C NP_001335012.1:n.2933+9T>C
NM_001348084.1:c.2933+9T>C NP_001335013.1:n.2933+9T>C
NM_182643.3:c.4466+9T>C MANE Select NP_872584.2:n.4466+9T>C
NM_001316668.2:c.3257+9T>C NP_001303597.1:n.3257+9T>C
NM_001348081.2:c.4466+9T>C NP_001335010.1:n.4466+9T>C
NM_001348082.2:c.2933+9T>C NP_001335011.1:n.2933+9T>C
NM_001348084.2:c.2933+9T>C NP_001335013.1:n.2933+9T>C
NM_006094.5:c.3155+9T>C NP_006085.2:n.3155+9T>C
NM_001164271.2:c.2933+9T>C NP_001157743.1:n.2933+9T>C