Canonical Allele Identifier: CA172225625

Gene: DLC1

Linked Data

• dbSNP Id: rs947712358
• gnomAD v3: 8-13319044-C-A
• gnomAD v4: 8-13319044-C-A
• MyVariant Identifiers: chr8:g.13176553C>A (hg19) ; chr8:g.13319044C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.13319044C>A , CM000670.2:g.13319044C>A	GRCh38
NC_000008.10:g.13176553C>A , CM000670.1:g.13176553C>A	GRCh37
NC_000008.9:g.13220924C>A	NCBI36
NG_015998.1:g.200877G>T
NG_015998.2:g.290562G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000276297.9:c.1315-13742G>T MANE Select	ENSP00000276297.4:n.1315-13742G>T
ENST00000276297.8:c.1315-13742G>T	ENSP00000276297.4:n.1315-13742G>T
ENST00000316609.9:c.1315-13742G>T	ENSP00000321034.5:n.1315-13742G>T
ENST00000511869.1:c.1315-13742G>T	ENSP00000425878.1:n.1315-13742G>T
NM_024767.3:c.1315-13742G>T	NP_079043.3:n.1315-13742G>T
NM_182643.2:c.1315-13742G>T	NP_872584.2:n.1315-13742G>T
XM_005273374.1:c.1315-13742G>T	XP_005273431.1:n.1315-13742G>T
NM_001348081.1:c.1315-13742G>T	NP_001335010.1:n.1315-13742G>T
NM_001348082.1:c.-137-13742G>T	NP_001335011.1:n.-137-13742G>T
NM_182643.3:c.1315-13742G>T MANE Select	NP_872584.2:n.1315-13742G>T
NM_001348081.2:c.1315-13742G>T	NP_001335010.1:n.1315-13742G>T
NM_001348082.2:c.-137-13742G>T	NP_001335011.1:n.-137-13742G>T
NM_024767.4:c.1315-13742G>T	NP_079043.3:n.1315-13742G>T
NM_024767.5:c.1315-13742G>T	NP_079043.3:n.1315-13742G>T