Canonical Allele Identifier: CA580278331
Gene: DLC1 HGNC NCBI

Linked Data

dbSNP Id: rs1405050572
gnomAD v2: 8-13176818-C-T
gnomAD v3: 8-13319309-C-T
gnomAD v4: 8-13319309-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.13319309C>T , CM000670.2:g.13319309C>T GRCh38
NC_000008.10:g.13176818C>T , CM000670.1:g.13176818C>T GRCh37
NC_000008.9:g.13221189C>T NCBI36
NG_015998.1:g.200612G>A
NG_015998.2:g.290297G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276297.9:c.1315-14007G>A MANE Select ENSP00000276297.4:n.1315-14007G>A
ENST00000276297.8:c.1315-14007G>A ENSP00000276297.4:n.1315-14007G>A
ENST00000316609.9:c.1315-14007G>A ENSP00000321034.5:n.1315-14007G>A
ENST00000511869.1:c.1315-14007G>A ENSP00000425878.1:n.1315-14007G>A
NM_024767.3:c.1315-14007G>A NP_079043.3:n.1315-14007G>A
NM_182643.2:c.1315-14007G>A NP_872584.2:n.1315-14007G>A
XM_005273374.1:c.1315-14007G>A XP_005273431.1:n.1315-14007G>A
NM_001348081.1:c.1315-14007G>A NP_001335010.1:n.1315-14007G>A
NM_001348082.1:c.-137-14007G>A NP_001335011.1:n.-137-14007G>A
NM_182643.3:c.1315-14007G>A MANE Select NP_872584.2:n.1315-14007G>A
NM_001348081.2:c.1315-14007G>A NP_001335010.1:n.1315-14007G>A
NM_001348082.2:c.-137-14007G>A NP_001335011.1:n.-137-14007G>A
NM_024767.4:c.1315-14007G>A NP_079043.3:n.1315-14007G>A
NM_024767.5:c.1315-14007G>A NP_079043.3:n.1315-14007G>A