Canonical Allele Identifier: CA172226181
Gene: DLC1 HGNC NCBI

Linked Data

dbSNP Id: rs979199739
gnomAD v2: 8-13176839-G-A
gnomAD v3: 8-13319330-G-A
gnomAD v4: 8-13319330-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13319330G>A , CM000670.2:g.13319330G>A GRCh38
NC_000008.10:g.13176839G>A , CM000670.1:g.13176839G>A GRCh37
NC_000008.9:g.13221210G>A NCBI36
NG_015998.1:g.200591C>T
NG_015998.2:g.290276C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000276297.9:c.1315-14028C>T MANE Select ENSP00000276297.4:n.1315-14028C>T
ENST00000276297.8:c.1315-14028C>T ENSP00000276297.4:n.1315-14028C>T
ENST00000316609.9:c.1315-14028C>T ENSP00000321034.5:n.1315-14028C>T
ENST00000511869.1:c.1315-14028C>T ENSP00000425878.1:n.1315-14028C>T
NM_024767.3:c.1315-14028C>T NP_079043.3:n.1315-14028C>T
NM_182643.2:c.1315-14028C>T NP_872584.2:n.1315-14028C>T
XM_005273374.1:c.1315-14028C>T XP_005273431.1:n.1315-14028C>T
NM_001348081.1:c.1315-14028C>T NP_001335010.1:n.1315-14028C>T
NM_001348082.1:c.-137-14028C>T NP_001335011.1:n.-137-14028C>T
NM_182643.3:c.1315-14028C>T MANE Select NP_872584.2:n.1315-14028C>T
NM_001348081.2:c.1315-14028C>T NP_001335010.1:n.1315-14028C>T
NM_001348082.2:c.-137-14028C>T NP_001335011.1:n.-137-14028C>T
NM_024767.4:c.1315-14028C>T NP_079043.3:n.1315-14028C>T
NM_024767.5:c.1315-14028C>T NP_079043.3:n.1315-14028C>T