Canonical Allele Identifier: CA414896032

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001499C>G (hg19) ; chrX:g.154773224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773224C>G , CM000685.2:g.154773224C>G	GRCh38
NC_000023.10:g.154001499C>G , CM000685.1:g.154001499C>G	GRCh37
NC_000023.9:g.153654693C>G	NCBI36
NG_009780.1:g.15469C>G , LRG_55:g.15469C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1010C>G	ENSP00000400542.2:p.Pro337Arg
ENST00000426673.6:c.*513C>G	ENSP00000407253.3:n.*513C>G
ENST00000484317.6:n.915C>G
ENST00000696575.1:c.1130C>G	ENSP00000512730.1:p.Pro377Arg
ENST00000696577.1:c.1130C>G	ENSP00000512731.1:p.Pro377Arg
ENST00000696578.1:c.*82C>G	ENSP00000512732.1:n.*82C>G
ENST00000696579.1:n.1232C>G
ENST00000696580.1:c.1043C>G	ENSP00000512733.1:p.Pro348Arg
ENST00000696581.1:c.*1104C>G	ENSP00000512734.1:n.*1104C>G
ENST00000696582.1:c.*336C>G	ENSP00000512735.1:n.*336C>G
ENST00000696583.1:c.1091C>G	ENSP00000512736.1:p.Pro364Arg
ENST00000696584.1:n.1654C>G
ENST00000696585.1:n.1773C>G
ENST00000696586.1:n.1547C>G
ENST00000696587.1:c.1010C>G	ENSP00000512737.1:p.Pro337Arg
ENST00000696588.1:c.521C>G	ENSP00000513251.1:p.Pro174Arg
ENST00000696589.1:n.905C>G
ENST00000696590.1:n.754C>G
ENST00000696591.1:n.479C>G
ENST00000696592.1:n.2009C>G
ENST00000696627.1:c.1130C>G	ENSP00000512764.1:p.Pro377Arg
ENST00000696628.1:c.1130C>G	ENSP00000512765.1:p.Pro377Arg
ENST00000369550.10:c.1130C>G MANE Select	ENSP00000358563.5:p.Pro377Arg
ENST00000369550.9:c.1130C>G	ENSP00000358563.5:p.Pro377Arg
ENST00000412124.5:c.388C>G
ENST00000426673.5:c.490C>G
ENST00000475966.1:n.619C>G
ENST00000481062.1:n.81C>G
ENST00000620277.4:c.1130C>G	ENSP00000478387.1:p.Pro377Arg
NM_001142463.2:c.1130C>G	NP_001135935.1:p.Pro377Arg
NM_001288747.1:c.1130C>G	NP_001275676.1:p.Pro377Arg
NM_001363.4:c.1130C>G	NP_001354.1:p.Pro377Arg
NR_110021.1:n.1831C>G
NR_110022.1:n.1950C>G
NR_110023.1:n.1724C>G
NM_001363.5:c.1130C>G MANE Select	NP_001354.1:p.Pro377Arg
NM_001142463.3:c.1130C>G	NP_001135935.1:p.Pro377Arg
NR_110021.2:n.1709C>G
NR_110022.2:n.1828C>G
NR_110023.2:n.1602C>G
NM_001288747.2:c.1130C>G	NP_001275676.1:p.Pro377Arg