Canonical Allele Identifier: CA580278316
Gene: DLC1 HGNC NCBI

Linked Data

dbSNP Id: rs1297518733
gnomAD v2: 8-13176426-C-G
gnomAD v3: 8-13318917-C-G
gnomAD v4: 8-13318917-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13318917C>G , CM000670.2:g.13318917C>G GRCh38
NC_000008.10:g.13176426C>G , CM000670.1:g.13176426C>G GRCh37
NC_000008.9:g.13220797C>G NCBI36
NG_015998.1:g.201004G>C
NG_015998.2:g.290689G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000276297.9:c.1315-13615G>C MANE Select ENSP00000276297.4:n.1315-13615G>C
ENST00000276297.8:c.1315-13615G>C ENSP00000276297.4:n.1315-13615G>C
ENST00000316609.9:c.1315-13615G>C ENSP00000321034.5:n.1315-13615G>C
ENST00000511869.1:c.1315-13615G>C ENSP00000425878.1:n.1315-13615G>C
NM_024767.3:c.1315-13615G>C NP_079043.3:n.1315-13615G>C
NM_182643.2:c.1315-13615G>C NP_872584.2:n.1315-13615G>C
XM_005273374.1:c.1315-13615G>C XP_005273431.1:n.1315-13615G>C
NM_001348081.1:c.1315-13615G>C NP_001335010.1:n.1315-13615G>C
NM_001348082.1:c.-137-13615G>C NP_001335011.1:n.-137-13615G>C
NM_182643.3:c.1315-13615G>C MANE Select NP_872584.2:n.1315-13615G>C
NM_001348081.2:c.1315-13615G>C NP_001335010.1:n.1315-13615G>C
NM_001348082.2:c.-137-13615G>C NP_001335011.1:n.-137-13615G>C
NM_024767.4:c.1315-13615G>C NP_079043.3:n.1315-13615G>C
NM_024767.5:c.1315-13615G>C NP_079043.3:n.1315-13615G>C