Canonical Allele Identifier: CA4638375
Community Standard Title: NM_182643.3(DLC1):c.3327+18G>A
Gene: DLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13095068C>T , CM000670.2:g.13095068C>T GRCh38
NC_000008.10:g.12952577C>T , CM000670.1:g.12952577C>T GRCh37
NC_000008.9:g.12996948C>T NCBI36
NG_015998.1:g.424853G>A
NG_015998.2:g.514538G>A

Transcript Alleles

HGVS Amino-acid Change
NM_182643.3:c.3327+18G>A MANE Select NP_872584.2:n.3327+18G>A
ENST00000276297.9:c.3327+18G>A MANE Select ENSP00000276297.4:n.3327+18G>A
NM_001164271.1:c.1794+18G>A NP_001157743.1:n.1794+18G>A
NM_001164271.2:c.1794+18G>A NP_001157743.1:n.1794+18G>A
NM_001316668.1:c.2118+18G>A NP_001303597.1:n.2118+18G>A
NM_001316668.2:c.2118+18G>A NP_001303597.1:n.2118+18G>A
NM_001348081.1:c.3327+18G>A NP_001335010.1:n.3327+18G>A
NM_001348081.2:c.3327+18G>A NP_001335010.1:n.3327+18G>A
NM_001348082.1:c.1794+18G>A NP_001335011.1:n.1794+18G>A
NM_001348082.2:c.1794+18G>A NP_001335011.1:n.1794+18G>A
NM_001348083.1:c.1794+18G>A NP_001335012.1:n.1794+18G>A
NM_001348084.1:c.1794+18G>A NP_001335013.1:n.1794+18G>A
NM_001348084.2:c.1794+18G>A NP_001335013.1:n.1794+18G>A
NM_006094.4:c.2016+18G>A NP_006085.2:n.2016+18G>A
NM_006094.5:c.2016+18G>A NP_006085.2:n.2016+18G>A
NM_182643.2:c.3327+18G>A NP_872584.2:n.3327+18G>A
ENST00000276297.8:c.3327+18G>A ENSP00000276297.4:n.3327+18G>A
ENST00000358919.6:c.2016+18G>A ENSP00000351797.2:n.2016+18G>A
ENST00000510250.2:n.1896+18G>A
ENST00000510318.5:n.512+18G>A
ENST00000512044.6:c.2118+18G>A ENSP00000422595.2:n.2118+18G>A
ENST00000513883.5:n.785+18G>A
ENST00000520226.5:c.1794+18G>A ENSP00000428028.1:n.1794+18G>A
XM_005273374.1:c.3327+18G>A XP_005273431.1:n.3327+18G>A