Canonical Allele Identifier: CA414895187

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001442G>T (hg19) ; chrX:g.154773167G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773167G>T , CM000685.2:g.154773167G>T	GRCh38
NC_000023.10:g.154001442G>T , CM000685.1:g.154001442G>T	GRCh37
NC_000023.9:g.153654636G>T	NCBI36
NG_009780.1:g.15412G>T , LRG_55:g.15412G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.953G>T	ENSP00000400542.2:p.Cys318Phe
ENST00000426673.6:c.*456G>T	ENSP00000407253.3:n.*456G>T
ENST00000484317.6:n.858G>T
ENST00000696575.1:c.1073G>T	ENSP00000512730.1:p.Cys358Phe
ENST00000696577.1:c.1073G>T	ENSP00000512731.1:p.Cys358Phe
ENST00000696578.1:c.*25G>T	ENSP00000512732.1:n.*25G>T
ENST00000696579.1:n.1175G>T
ENST00000696580.1:c.986G>T	ENSP00000512733.1:p.Cys329Phe
ENST00000696581.1:c.*1047G>T	ENSP00000512734.1:n.*1047G>T
ENST00000696582.1:c.*279G>T	ENSP00000512735.1:n.*279G>T
ENST00000696583.1:c.1034G>T	ENSP00000512736.1:p.Cys345Phe
ENST00000696584.1:n.1597G>T
ENST00000696585.1:n.1716G>T
ENST00000696586.1:n.1490G>T
ENST00000696587.1:c.953G>T	ENSP00000512737.1:p.Cys318Phe
ENST00000696588.1:c.464G>T	ENSP00000513251.1:p.Cys155Phe
ENST00000696589.1:n.848G>T
ENST00000696590.1:n.697G>T
ENST00000696591.1:n.422G>T
ENST00000696592.1:n.1952G>T
ENST00000696627.1:c.1073G>T	ENSP00000512764.1:p.Cys358Phe
ENST00000696628.1:c.1073G>T	ENSP00000512765.1:p.Cys358Phe
ENST00000369550.10:c.1073G>T MANE Select	ENSP00000358563.5:p.Cys358Phe
ENST00000369550.9:c.1073G>T	ENSP00000358563.5:p.Cys358Phe
ENST00000412124.5:c.331G>T
ENST00000426673.5:c.433G>T
ENST00000475966.1:n.562G>T
ENST00000481062.1:n.24G>T
ENST00000620277.4:c.1073G>T	ENSP00000478387.1:p.Cys358Phe
NM_001142463.2:c.1073G>T	NP_001135935.1:p.Cys358Phe
NM_001288747.1:c.1073G>T	NP_001275676.1:p.Cys358Phe
NM_001363.4:c.1073G>T	NP_001354.1:p.Cys358Phe
NR_110021.1:n.1774G>T
NR_110022.1:n.1893G>T
NR_110023.1:n.1667G>T
NM_001363.5:c.1073G>T MANE Select	NP_001354.1:p.Cys358Phe
NM_001142463.3:c.1073G>T	NP_001135935.1:p.Cys358Phe
NR_110021.2:n.1652G>T
NR_110022.2:n.1771G>T
NR_110023.2:n.1545G>T
NM_001288747.2:c.1073G>T	NP_001275676.1:p.Cys358Phe