Canonical Allele Identifier: CA341114

Gene: DKC1

Linked Data

• ClinVar Variation Id: 11586
• ClinVar RCV Id: RCV000012342
• dbSNP Id: rs121912295
• MyVariant Identifiers: chrX:g.154002926G>A (hg19) ; chrX:g.154774651G>A (hg38)
• PubMed: PMID:1361371 ; PMID:9590285 ; PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154774651G>A , CM000685.2:g.154774651G>A	GRCh38
NC_000023.10:g.154002926G>A , CM000685.1:g.154002926G>A	GRCh37
NC_000023.9:g.153656120G>A	NCBI36
NG_009780.1:g.16896G>A , LRG_55:g.16896G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1085G>A	ENSP00000400542.2:p.Gly362Glu
ENST00000426673.6:c.*588G>A	ENSP00000407253.3:n.*588G>A
ENST00000484317.6:n.990G>A
ENST00000696575.1:c.1205G>A	ENSP00000512730.1:p.Gly402Glu
ENST00000696577.1:c.1205G>A	ENSP00000512731.1:p.Gly402Glu
ENST00000696578.1:c.*157G>A	ENSP00000512732.1:n.*157G>A
ENST00000696579.1:n.1307G>A
ENST00000696580.1:c.1118G>A	ENSP00000512733.1:p.Gly373Glu
ENST00000696581.1:c.*1179G>A	ENSP00000512734.1:n.*1179G>A
ENST00000696582.1:c.*411G>A	ENSP00000512735.1:n.*411G>A
ENST00000696583.1:c.1166G>A	ENSP00000512736.1:p.Gly389Glu
ENST00000696584.1:n.1729G>A
ENST00000696585.1:n.1848G>A
ENST00000696586.1:n.1622G>A
ENST00000696587.1:c.1085G>A	ENSP00000512737.1:p.Gly362Glu
ENST00000696588.1:c.596G>A	ENSP00000513251.1:p.Gly199Glu
ENST00000696589.1:n.980G>A
ENST00000696590.1:n.829G>A
ENST00000696591.1:n.554G>A
ENST00000696592.1:n.2084G>A
ENST00000696627.1:c.*31G>A	ENSP00000512764.1:n.*31G>A
ENST00000696628.1:c.1205G>A	ENSP00000512765.1:p.Gly402Glu
ENST00000369550.10:c.1205G>A MANE Select	ENSP00000358563.5:p.Gly402Glu
ENST00000369550.9:c.1205G>A	ENSP00000358563.5:p.Gly402Glu
ENST00000412124.5:c.463G>A
ENST00000426673.5:c.565G>A
ENST00000475966.1:n.694G>A
ENST00000481062.1:n.156G>A
ENST00000620277.4:c.1205G>A	ENSP00000478387.1:p.Gly402Glu
NM_001142463.2:c.1205G>A	NP_001135935.1:p.Gly402Glu
NM_001288747.1:c.1205G>A	NP_001275676.1:p.Gly402Glu
NM_001363.4:c.1205G>A	NP_001354.1:p.Gly402Glu
NR_110021.1:n.1906G>A
NR_110022.1:n.2025G>A
NR_110023.1:n.1799G>A
NM_001363.5:c.1205G>A MANE Select	NP_001354.1:p.Gly402Glu
NM_001142463.3:c.1205G>A	NP_001135935.1:p.Gly402Glu
NR_110021.2:n.1784G>A
NR_110022.2:n.1903G>A
NR_110023.2:n.1677G>A
NM_001288747.2:c.1205G>A	NP_001275676.1:p.Gly402Glu