Canonical Allele Identifier: CA414896106

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001508G>T (hg19) ; chrX:g.154773233G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773233G>T , CM000685.2:g.154773233G>T	GRCh38
NC_000023.10:g.154001508G>T , CM000685.1:g.154001508G>T	GRCh37
NC_000023.9:g.153654702G>T	NCBI36
NG_009780.1:g.15478G>T , LRG_55:g.15478G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1019G>T	ENSP00000400542.2:p.Trp340Leu
ENST00000426673.6:c.*522G>T	ENSP00000407253.3:n.*522G>T
ENST00000484317.6:n.924G>T
ENST00000696575.1:c.1139G>T	ENSP00000512730.1:p.Trp380Leu
ENST00000696577.1:c.1139G>T	ENSP00000512731.1:p.Trp380Leu
ENST00000696578.1:c.*91G>T	ENSP00000512732.1:n.*91G>T
ENST00000696579.1:n.1241G>T
ENST00000696580.1:c.1052G>T	ENSP00000512733.1:p.Trp351Leu
ENST00000696581.1:c.*1113G>T	ENSP00000512734.1:n.*1113G>T
ENST00000696582.1:c.*345G>T	ENSP00000512735.1:n.*345G>T
ENST00000696583.1:c.1100G>T	ENSP00000512736.1:p.Trp367Leu
ENST00000696584.1:n.1663G>T
ENST00000696585.1:n.1782G>T
ENST00000696586.1:n.1556G>T
ENST00000696587.1:c.1019G>T	ENSP00000512737.1:p.Trp340Leu
ENST00000696588.1:c.530G>T	ENSP00000513251.1:p.Trp177Leu
ENST00000696589.1:n.914G>T
ENST00000696590.1:n.763G>T
ENST00000696591.1:n.488G>T
ENST00000696592.1:n.2018G>T
ENST00000696627.1:c.1139G>T	ENSP00000512764.1:p.Trp380Leu
ENST00000696628.1:c.1139G>T	ENSP00000512765.1:p.Trp380Leu
ENST00000369550.10:c.1139G>T MANE Select	ENSP00000358563.5:p.Trp380Leu
ENST00000369550.9:c.1139G>T	ENSP00000358563.5:p.Trp380Leu
ENST00000412124.5:c.397G>T
ENST00000426673.5:c.499G>T
ENST00000475966.1:n.628G>T
ENST00000481062.1:n.90G>T
ENST00000620277.4:c.1139G>T	ENSP00000478387.1:p.Trp380Leu
NM_001142463.2:c.1139G>T	NP_001135935.1:p.Trp380Leu
NM_001288747.1:c.1139G>T	NP_001275676.1:p.Trp380Leu
NM_001363.4:c.1139G>T	NP_001354.1:p.Trp380Leu
NR_110021.1:n.1840G>T
NR_110022.1:n.1959G>T
NR_110023.1:n.1733G>T
NM_001363.5:c.1139G>T MANE Select	NP_001354.1:p.Trp380Leu
NM_001142463.3:c.1139G>T	NP_001135935.1:p.Trp380Leu
NR_110021.2:n.1718G>T
NR_110022.2:n.1837G>T
NR_110023.2:n.1611G>T
NM_001288747.2:c.1139G>T	NP_001275676.1:p.Trp380Leu