Canonical Allele Identifier: CA414896176

Gene: DKC1

Linked Data

• gnomAD v4: X-154773240-A-T
• MyVariant Identifiers: chrX:g.154001515A>T (hg19) ; chrX:g.154773240A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773240A>T , CM000685.2:g.154773240A>T	GRCh38
NC_000023.10:g.154001515A>T , CM000685.1:g.154001515A>T	GRCh37
NC_000023.9:g.153654709A>T	NCBI36
NG_009780.1:g.15485A>T , LRG_55:g.15485A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1026A>T	ENSP00000400542.2:p.Leu342Phe
ENST00000426673.6:c.*529A>T	ENSP00000407253.3:n.*529A>T
ENST00000484317.6:n.931A>T
ENST00000696575.1:c.1146A>T	ENSP00000512730.1:p.Leu382Phe
ENST00000696577.1:c.1146A>T	ENSP00000512731.1:p.Leu382Phe
ENST00000696578.1:c.*98A>T	ENSP00000512732.1:n.*98A>T
ENST00000696579.1:n.1248A>T
ENST00000696580.1:c.1059A>T	ENSP00000512733.1:p.Leu353Phe
ENST00000696581.1:c.*1120A>T	ENSP00000512734.1:n.*1120A>T
ENST00000696582.1:c.*352A>T	ENSP00000512735.1:n.*352A>T
ENST00000696583.1:c.1107A>T	ENSP00000512736.1:p.Leu369Phe
ENST00000696584.1:n.1670A>T
ENST00000696585.1:n.1789A>T
ENST00000696586.1:n.1563A>T
ENST00000696587.1:c.1026A>T	ENSP00000512737.1:p.Leu342Phe
ENST00000696588.1:c.537A>T	ENSP00000513251.1:p.Leu179Phe
ENST00000696589.1:n.921A>T
ENST00000696590.1:n.770A>T
ENST00000696591.1:n.495A>T
ENST00000696592.1:n.2025A>T
ENST00000696627.1:c.1146A>T	ENSP00000512764.1:p.Leu382Phe
ENST00000696628.1:c.1146A>T	ENSP00000512765.1:p.Leu382Phe
ENST00000369550.10:c.1146A>T MANE Select	ENSP00000358563.5:p.Leu382Phe
ENST00000369550.9:c.1146A>T	ENSP00000358563.5:p.Leu382Phe
ENST00000412124.5:c.404A>T
ENST00000426673.5:c.506A>T
ENST00000475966.1:n.635A>T
ENST00000481062.1:n.97A>T
ENST00000620277.4:c.1146A>T	ENSP00000478387.1:p.Leu382Phe
NM_001142463.2:c.1146A>T	NP_001135935.1:p.Leu382Phe
NM_001288747.1:c.1146A>T	NP_001275676.1:p.Leu382Phe
NM_001363.4:c.1146A>T	NP_001354.1:p.Leu382Phe
NR_110021.1:n.1847A>T
NR_110022.1:n.1966A>T
NR_110023.1:n.1740A>T
NM_001363.5:c.1146A>T MANE Select	NP_001354.1:p.Leu382Phe
NM_001142463.3:c.1146A>T	NP_001135935.1:p.Leu382Phe
NR_110021.2:n.1725A>T
NR_110022.2:n.1844A>T
NR_110023.2:n.1618A>T
NM_001288747.2:c.1146A>T	NP_001275676.1:p.Leu382Phe