Canonical Allele Identifier: CA4638381
Community Standard Title: NM_182643.3(DLC1):c.3327+8C>T
Gene: DLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13095078G>A , CM000670.2:g.13095078G>A GRCh38
NC_000008.10:g.12952587G>A , CM000670.1:g.12952587G>A GRCh37
NC_000008.9:g.12996958G>A NCBI36
NG_015998.1:g.424843C>T
NG_015998.2:g.514528C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182643.3:c.3327+8C>T MANE Select NP_872584.2:n.3327+8C>T
ENST00000276297.9:c.3327+8C>T MANE Select ENSP00000276297.4:n.3327+8C>T
NM_001164271.1:c.1794+8C>T NP_001157743.1:n.1794+8C>T
NM_001164271.2:c.1794+8C>T NP_001157743.1:n.1794+8C>T
NM_001316668.1:c.2118+8C>T NP_001303597.1:n.2118+8C>T
NM_001316668.2:c.2118+8C>T NP_001303597.1:n.2118+8C>T
NM_001348081.1:c.3327+8C>T NP_001335010.1:n.3327+8C>T
NM_001348081.2:c.3327+8C>T NP_001335010.1:n.3327+8C>T
NM_001348082.1:c.1794+8C>T NP_001335011.1:n.1794+8C>T
NM_001348082.2:c.1794+8C>T NP_001335011.1:n.1794+8C>T
NM_001348083.1:c.1794+8C>T NP_001335012.1:n.1794+8C>T
NM_001348084.1:c.1794+8C>T NP_001335013.1:n.1794+8C>T
NM_001348084.2:c.1794+8C>T NP_001335013.1:n.1794+8C>T
NM_006094.4:c.2016+8C>T NP_006085.2:n.2016+8C>T
NM_006094.5:c.2016+8C>T NP_006085.2:n.2016+8C>T
NM_182643.2:c.3327+8C>T NP_872584.2:n.3327+8C>T
ENST00000276297.8:c.3327+8C>T ENSP00000276297.4:n.3327+8C>T
ENST00000358919.6:c.2016+8C>T ENSP00000351797.2:n.2016+8C>T
ENST00000510250.2:n.1896+8C>T
ENST00000510318.5:n.512+8C>T
ENST00000512044.6:c.2118+8C>T ENSP00000422595.2:n.2118+8C>T
ENST00000513883.5:n.785+8C>T
ENST00000520226.5:c.1794+8C>T ENSP00000428028.1:n.1794+8C>T
XM_005273374.1:c.3327+8C>T XP_005273431.1:n.3327+8C>T