Canonical Allele Identifier: CA341118

Gene: DKC1

Linked Data

• ClinVar Variation Id: 11594
• ClinVar RCV Id: RCV000012352
• dbSNP Id: rs137854491
• MyVariant Identifiers: chrX:g.153993725C>A (hg19) ; chrX:g.154765450C>A (hg38)
• PubMed: PMID:15842668 ; PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765450C>A , CM000685.2:g.154765450C>A	GRCh38
NC_000023.10:g.153993725C>A , CM000685.1:g.153993725C>A	GRCh37
NC_000023.9:g.153646919C>A	NCBI36
NG_009780.1:g.7695C>A , LRG_55:g.7695C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.91C>A	ENSP00000400542.2:p.Gln31Lys
ENST00000426673.6:c.91C>A	ENSP00000407253.3:p.Gln31Lys
ENST00000696575.1:c.91C>A	ENSP00000512730.1:p.Gln31Lys
ENST00000696576.1:n.193C>A
ENST00000696577.1:c.91C>A	ENSP00000512731.1:p.Gln31Lys
ENST00000696578.1:c.91C>A	ENSP00000512732.1:p.Gln31Lys
ENST00000696579.1:n.193C>A
ENST00000696580.1:c.85-457C>A	ENSP00000512733.1:n.85-457C>A
ENST00000696581.1:c.*65C>A	ENSP00000512734.1:n.*65C>A
ENST00000696582.1:c.91C>A	ENSP00000512735.1:p.Gln31Lys
ENST00000696583.1:c.91C>A	ENSP00000512736.1:p.Gln31Lys
ENST00000696584.1:n.615C>A
ENST00000696585.1:n.138C>A
ENST00000696586.1:n.138C>A
ENST00000696587.1:c.91C>A	ENSP00000512737.1:p.Gln31Lys
ENST00000696588.1:c.-519C>A	ENSP00000513251.1:n.-519C>A
ENST00000696627.1:c.91C>A	ENSP00000512764.1:p.Gln31Lys
ENST00000696628.1:c.91C>A	ENSP00000512765.1:p.Gln31Lys
ENST00000369550.10:c.91C>A MANE Select	ENSP00000358563.5:p.Gln31Lys
ENST00000369550.9:c.91C>A	ENSP00000358563.5:p.Gln31Lys
ENST00000413910.5:c.91C>A	ENSP00000400542.1:p.Gln31Lys
ENST00000437719.5:c.47C>A
ENST00000452771.5:c.49C>A	ENSP00000407325.1:p.Gln17Lys
ENST00000473552.1:n.144C>A
ENST00000620277.4:c.91C>A	ENSP00000478387.1:p.Gln31Lys
NM_001142463.2:c.91C>A	NP_001135935.1:p.Gln31Lys
NM_001288747.1:c.91C>A	NP_001275676.1:p.Gln31Lys
NM_001363.4:c.91C>A	NP_001354.1:p.Gln31Lys
NR_110021.1:n.792C>A
NR_110022.1:n.315C>A
NR_110023.1:n.315C>A
NM_001363.5:c.91C>A MANE Select	NP_001354.1:p.Gln31Lys
NM_001142463.3:c.91C>A	NP_001135935.1:p.Gln31Lys
NR_110021.2:n.670C>A
NR_110022.2:n.193C>A
NR_110023.2:n.193C>A
NM_001288747.2:c.91C>A	NP_001275676.1:p.Gln31Lys