Canonical Allele Identifier: CA4638475
Community Standard Title: NM_182643.3(DLC1):c.2991-5C>G
Gene: DLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13098580G>C , CM000670.2:g.13098580G>C GRCh38
NC_000008.10:g.12956089G>C , CM000670.1:g.12956089G>C GRCh37
NC_000008.9:g.13000460G>C NCBI36
NG_015998.1:g.421341C>G
NG_015998.2:g.511026C>G

Transcript Alleles

HGVS Amino-acid Change
NM_182643.3:c.2991-5C>G MANE Select NP_872584.2:n.2991-5C>G
ENST00000276297.9:c.2991-5C>G MANE Select ENSP00000276297.4:n.2991-5C>G
NM_001164271.1:c.1458-5C>G NP_001157743.1:n.1458-5C>G
NM_001164271.2:c.1458-5C>G NP_001157743.1:n.1458-5C>G
NM_001316668.1:c.1782-5C>G NP_001303597.1:n.1782-5C>G
NM_001316668.2:c.1782-5C>G NP_001303597.1:n.1782-5C>G
NM_001348081.1:c.2991-5C>G NP_001335010.1:n.2991-5C>G
NM_001348081.2:c.2991-5C>G NP_001335010.1:n.2991-5C>G
NM_001348082.1:c.1458-5C>G NP_001335011.1:n.1458-5C>G
NM_001348082.2:c.1458-5C>G NP_001335011.1:n.1458-5C>G
NM_001348083.1:c.1458-5C>G NP_001335012.1:n.1458-5C>G
NM_001348084.1:c.1458-5C>G NP_001335013.1:n.1458-5C>G
NM_001348084.2:c.1458-5C>G NP_001335013.1:n.1458-5C>G
NM_006094.4:c.1680-5C>G NP_006085.2:n.1680-5C>G
NM_006094.5:c.1680-5C>G NP_006085.2:n.1680-5C>G
NM_182643.2:c.2991-5C>G NP_872584.2:n.2991-5C>G
ENST00000276297.8:c.2991-5C>G ENSP00000276297.4:n.2991-5C>G
ENST00000358919.6:c.1680-5C>G ENSP00000351797.2:n.1680-5C>G
ENST00000510250.2:n.1560-5C>G
ENST00000512044.6:c.1782-5C>G ENSP00000422595.2:n.1782-5C>G
ENST00000520226.5:c.1458-5C>G ENSP00000428028.1:n.1458-5C>G
XM_005273374.1:c.2991-5C>G XP_005273431.1:n.2991-5C>G