Canonical Allele Identifier: CA16618597

Gene: DLC1

Linked Data

• ClinVar Variation Id: 422271
• ClinVar RCV Id: RCV000487248
• dbSNP Id: rs1064795671
• MyVariant Identifiers: chr8:g.12957010A>G (hg19) ; chr8:g.13099501A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.13099501A>G , CM000670.2:g.13099501A>G	GRCh38
NC_000008.10:g.12957010A>G , CM000670.1:g.12957010A>G	GRCh37
NC_000008.9:g.13001381A>G	NCBI36
NG_015998.1:g.420420T>C
NG_015998.2:g.510105T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276297.9:c.2836T>C MANE Select	ENSP00000276297.4:p.Ser946Pro
ENST00000276297.8:c.2836T>C	ENSP00000276297.4:p.Ser946Pro
ENST00000358919.6:c.1525T>C	ENSP00000351797.2:p.Ser509Pro
ENST00000510250.2:n.1405T>C
ENST00000512044.6:c.1627T>C	ENSP00000422595.2:p.Ser543Pro
ENST00000520226.5:c.1303T>C	ENSP00000428028.1:p.Ser435Pro
NM_001164271.1:c.1303T>C	NP_001157743.1:p.Ser435Pro
NM_001316668.1:c.1627T>C	NP_001303597.1:p.Ser543Pro
NM_006094.4:c.1525T>C	NP_006085.2:p.Ser509Pro
NM_182643.2:c.2836T>C	NP_872584.2:p.Ser946Pro
XM_005273374.1:c.2836T>C	XP_005273431.1:p.Ser946Pro
NM_001348081.1:c.2836T>C	NP_001335010.1:p.Ser946Pro
NM_001348082.1:c.1303T>C	NP_001335011.1:p.Ser435Pro
NM_001348083.1:c.1303T>C	NP_001335012.1:p.Ser435Pro
NM_001348084.1:c.1303T>C	NP_001335013.1:p.Ser435Pro
NM_182643.3:c.2836T>C MANE Select	NP_872584.2:p.Ser946Pro
NM_001316668.2:c.1627T>C	NP_001303597.1:p.Ser543Pro
NM_001348081.2:c.2836T>C	NP_001335010.1:p.Ser946Pro
NM_001348082.2:c.1303T>C	NP_001335011.1:p.Ser435Pro
NM_001348084.2:c.1303T>C	NP_001335013.1:p.Ser435Pro
NM_006094.5:c.1525T>C	NP_006085.2:p.Ser509Pro
NM_001164271.2:c.1303T>C	NP_001157743.1:p.Ser435Pro