Canonical Allele Identifier: CA414895910

Gene: DKC1

Linked Data

• ClinVar Variation Id: 1497905
• ClinVar RCV Id: RCV002033798
• dbSNP Id: rs2148515114
• MyVariant Identifiers: chrX:g.154001483G>C (hg19) ; chrX:g.154773208G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773208G>C , CM000685.2:g.154773208G>C	GRCh38
NC_000023.10:g.154001483G>C , CM000685.1:g.154001483G>C	GRCh37
NC_000023.9:g.153654677G>C	NCBI36
NG_009780.1:g.15453G>C , LRG_55:g.15453G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.994G>C	ENSP00000400542.2:p.Glu332Gln
ENST00000426673.6:c.*497G>C	ENSP00000407253.3:n.*497G>C
ENST00000484317.6:n.899G>C
ENST00000696575.1:c.1114G>C	ENSP00000512730.1:p.Glu372Gln
ENST00000696577.1:c.1114G>C	ENSP00000512731.1:p.Glu372Gln
ENST00000696578.1:c.*66G>C	ENSP00000512732.1:n.*66G>C
ENST00000696579.1:n.1216G>C
ENST00000696580.1:c.1027G>C	ENSP00000512733.1:p.Glu343Gln
ENST00000696581.1:c.*1088G>C	ENSP00000512734.1:n.*1088G>C
ENST00000696582.1:c.*320G>C	ENSP00000512735.1:n.*320G>C
ENST00000696583.1:c.1075G>C	ENSP00000512736.1:p.Glu359Gln
ENST00000696584.1:n.1638G>C
ENST00000696585.1:n.1757G>C
ENST00000696586.1:n.1531G>C
ENST00000696587.1:c.994G>C	ENSP00000512737.1:p.Glu332Gln
ENST00000696588.1:c.505G>C	ENSP00000513251.1:p.Glu169Gln
ENST00000696589.1:n.889G>C
ENST00000696590.1:n.738G>C
ENST00000696591.1:n.463G>C
ENST00000696592.1:n.1993G>C
ENST00000696627.1:c.1114G>C	ENSP00000512764.1:p.Glu372Gln
ENST00000696628.1:c.1114G>C	ENSP00000512765.1:p.Glu372Gln
ENST00000369550.10:c.1114G>C MANE Select	ENSP00000358563.5:p.Glu372Gln
ENST00000369550.9:c.1114G>C	ENSP00000358563.5:p.Glu372Gln
ENST00000412124.5:c.372G>C
ENST00000426673.5:c.474G>C
ENST00000475966.1:n.603G>C
ENST00000481062.1:n.65G>C
ENST00000620277.4:c.1114G>C	ENSP00000478387.1:p.Glu372Gln
NM_001142463.2:c.1114G>C	NP_001135935.1:p.Glu372Gln
NM_001288747.1:c.1114G>C	NP_001275676.1:p.Glu372Gln
NM_001363.4:c.1114G>C	NP_001354.1:p.Glu372Gln
NR_110021.1:n.1815G>C
NR_110022.1:n.1934G>C
NR_110023.1:n.1708G>C
NM_001363.5:c.1114G>C MANE Select	NP_001354.1:p.Glu372Gln
NM_001142463.3:c.1114G>C	NP_001135935.1:p.Glu372Gln
NR_110021.2:n.1693G>C
NR_110022.2:n.1812G>C
NR_110023.2:n.1586G>C
NM_001288747.2:c.1114G>C	NP_001275676.1:p.Glu372Gln