Canonical Allele Identifier: CA414896066

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001505A>G (hg19) ; chrX:g.154773230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773230A>G , CM000685.2:g.154773230A>G	GRCh38
NC_000023.10:g.154001505A>G , CM000685.1:g.154001505A>G	GRCh37
NC_000023.9:g.153654699A>G	NCBI36
NG_009780.1:g.15475A>G , LRG_55:g.15475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1016A>G	ENSP00000400542.2:p.Lys339Arg
ENST00000426673.6:c.*519A>G	ENSP00000407253.3:n.*519A>G
ENST00000484317.6:n.921A>G
ENST00000696575.1:c.1136A>G	ENSP00000512730.1:p.Lys379Arg
ENST00000696577.1:c.1136A>G	ENSP00000512731.1:p.Lys379Arg
ENST00000696578.1:c.*88A>G	ENSP00000512732.1:n.*88A>G
ENST00000696579.1:n.1238A>G
ENST00000696580.1:c.1049A>G	ENSP00000512733.1:p.Lys350Arg
ENST00000696581.1:c.*1110A>G	ENSP00000512734.1:n.*1110A>G
ENST00000696582.1:c.*342A>G	ENSP00000512735.1:n.*342A>G
ENST00000696583.1:c.1097A>G	ENSP00000512736.1:p.Lys366Arg
ENST00000696584.1:n.1660A>G
ENST00000696585.1:n.1779A>G
ENST00000696586.1:n.1553A>G
ENST00000696587.1:c.1016A>G	ENSP00000512737.1:p.Lys339Arg
ENST00000696588.1:c.527A>G	ENSP00000513251.1:p.Lys176Arg
ENST00000696589.1:n.911A>G
ENST00000696590.1:n.760A>G
ENST00000696591.1:n.485A>G
ENST00000696592.1:n.2015A>G
ENST00000696627.1:c.1136A>G	ENSP00000512764.1:p.Lys379Arg
ENST00000696628.1:c.1136A>G	ENSP00000512765.1:p.Lys379Arg
ENST00000369550.10:c.1136A>G MANE Select	ENSP00000358563.5:p.Lys379Arg
ENST00000369550.9:c.1136A>G	ENSP00000358563.5:p.Lys379Arg
ENST00000412124.5:c.394A>G
ENST00000426673.5:c.496A>G
ENST00000475966.1:n.625A>G
ENST00000481062.1:n.87A>G
ENST00000620277.4:c.1136A>G	ENSP00000478387.1:p.Lys379Arg
NM_001142463.2:c.1136A>G	NP_001135935.1:p.Lys379Arg
NM_001288747.1:c.1136A>G	NP_001275676.1:p.Lys379Arg
NM_001363.4:c.1136A>G	NP_001354.1:p.Lys379Arg
NR_110021.1:n.1837A>G
NR_110022.1:n.1956A>G
NR_110023.1:n.1730A>G
NM_001363.5:c.1136A>G MANE Select	NP_001354.1:p.Lys379Arg
NM_001142463.3:c.1136A>G	NP_001135935.1:p.Lys379Arg
NR_110021.2:n.1715A>G
NR_110022.2:n.1834A>G
NR_110023.2:n.1608A>G
NM_001288747.2:c.1136A>G	NP_001275676.1:p.Lys379Arg