Canonical Allele Identifier: CA4638775
Gene: DLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13100460G>A , CM000670.2:g.13100460G>A GRCh38
NC_000008.10:g.12957969G>A , CM000670.1:g.12957969G>A GRCh37
NC_000008.9:g.13002340G>A NCBI36
NG_015998.1:g.419461C>T
NG_015998.2:g.509146C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182643.3:c.1877C>T MANE Select NP_872584.2:p.Ser626Phe
ENST00000276297.9:c.1877C>T MANE Select ENSP00000276297.4:p.Ser626Phe
NM_001164271.1:c.344C>T NP_001157743.1:p.Ser115Phe
NM_001164271.2:c.344C>T NP_001157743.1:p.Ser115Phe
NM_001316668.1:c.668C>T NP_001303597.1:p.Ser223Phe
NM_001316668.2:c.668C>T NP_001303597.1:p.Ser223Phe
NM_001348081.1:c.1877C>T NP_001335010.1:p.Ser626Phe
NM_001348081.2:c.1877C>T NP_001335010.1:p.Ser626Phe
NM_001348082.1:c.344C>T NP_001335011.1:p.Ser115Phe
NM_001348082.2:c.344C>T NP_001335011.1:p.Ser115Phe
NM_001348083.1:c.344C>T NP_001335012.1:p.Ser115Phe
NM_001348084.1:c.344C>T NP_001335013.1:p.Ser115Phe
NM_001348084.2:c.344C>T NP_001335013.1:p.Ser115Phe
NM_006094.4:c.566C>T NP_006085.2:p.Ser189Phe
NM_006094.5:c.566C>T NP_006085.2:p.Ser189Phe
NM_182643.2:c.1877C>T NP_872584.2:p.Ser626Phe
ENST00000276297.8:c.1877C>T ENSP00000276297.4:p.Ser626Phe
ENST00000358919.6:c.566C>T ENSP00000351797.2:p.Ser189Phe
ENST00000510250.2:n.446C>T
ENST00000512044.6:c.668C>T ENSP00000422595.2:p.Ser223Phe
ENST00000520226.5:c.344C>T ENSP00000428028.1:p.Ser115Phe
XM_005273374.1:c.1877C>T XP_005273431.1:p.Ser626Phe