Canonical Allele Identifier: CA519357883

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001476G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773201G>A , CM000685.2:g.154773201G>A	GRCh38
NC_000023.10:g.154001476G>A , CM000685.1:g.154001476G>A	GRCh37
NC_000023.9:g.153654670G>A	NCBI36
NG_009780.1:g.15446G>A , LRG_55:g.15446G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.987G>A	ENSP00000400542.2:p.Val329=
ENST00000426673.6:c.*490G>A	ENSP00000407253.3:n.*490G>A
ENST00000484317.6:n.892G>A
ENST00000696575.1:c.1107G>A	ENSP00000512730.1:p.Val369=
ENST00000696577.1:c.1107G>A	ENSP00000512731.1:p.Val369=
ENST00000696578.1:c.*59G>A	ENSP00000512732.1:n.*59G>A
ENST00000696579.1:n.1209G>A
ENST00000696580.1:c.1020G>A	ENSP00000512733.1:p.Val340=
ENST00000696581.1:c.*1081G>A	ENSP00000512734.1:n.*1081G>A
ENST00000696582.1:c.*313G>A	ENSP00000512735.1:n.*313G>A
ENST00000696583.1:c.1068G>A	ENSP00000512736.1:p.Val356=
ENST00000696584.1:n.1631G>A
ENST00000696585.1:n.1750G>A
ENST00000696586.1:n.1524G>A
ENST00000696587.1:c.987G>A	ENSP00000512737.1:p.Val329=
ENST00000696588.1:c.498G>A	ENSP00000513251.1:p.Val166=
ENST00000696589.1:n.882G>A
ENST00000696590.1:n.731G>A
ENST00000696591.1:n.456G>A
ENST00000696592.1:n.1986G>A
ENST00000696627.1:c.1107G>A	ENSP00000512764.1:p.Val369=
ENST00000696628.1:c.1107G>A	ENSP00000512765.1:p.Val369=
ENST00000369550.10:c.1107G>A MANE Select	ENSP00000358563.5:p.Val369=
ENST00000369550.9:c.1107G>A	ENSP00000358563.5:p.Val369=
ENST00000412124.5:c.365G>A
ENST00000426673.5:c.467G>A
ENST00000475966.1:n.596G>A
ENST00000481062.1:n.58G>A
ENST00000620277.4:c.1107G>A	ENSP00000478387.1:p.Val369=
NM_001142463.2:c.1107G>A	NP_001135935.1:p.Val369=
NM_001288747.1:c.1107G>A	NP_001275676.1:p.Val369=
NM_001363.4:c.1107G>A	NP_001354.1:p.Val369=
NR_110021.1:n.1808G>A
NR_110022.1:n.1927G>A
NR_110023.1:n.1701G>A
NM_001363.5:c.1107G>A MANE Select	NP_001354.1:p.Val369=
NM_001142463.3:c.1107G>A	NP_001135935.1:p.Val369=
NR_110021.2:n.1686G>A
NR_110022.2:n.1805G>A
NR_110023.2:n.1579G>A
NM_001288747.2:c.1107G>A	NP_001275676.1:p.Val369=