Canonical Allele Identifier: CA414899427

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004484A>G (hg19) ; chrX:g.154776209A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776209A>G , CM000685.2:g.154776209A>G	GRCh38
NC_000023.10:g.154004484A>G , CM000685.1:g.154004484A>G	GRCh37
NC_000023.9:g.153657678A>G	NCBI36
NG_009780.1:g.18454A>G , LRG_55:g.18454A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*157A>G	ENSP00000400542.2:n.*157A>G
ENST00000426673.6:c.*803A>G	ENSP00000407253.3:n.*803A>G
ENST00000484317.6:n.1635A>G
ENST00000492372.2:n.299A>G
ENST00000696575.1:c.1346A>G	ENSP00000512730.1:p.Glu449Gly
ENST00000696577.1:c.1361A>G	ENSP00000512731.1:p.Glu454Gly
ENST00000696578.1:c.*313A>G	ENSP00000512732.1:n.*313A>G
ENST00000696579.1:n.2376A>G
ENST00000696580.1:c.1274A>G	ENSP00000512733.1:p.Glu425Gly
ENST00000696581.1:c.*1335A>G	ENSP00000512734.1:n.*1335A>G
ENST00000696582.1:c.*567A>G	ENSP00000512735.1:n.*567A>G
ENST00000696583.1:c.1322A>G	ENSP00000512736.1:p.Glu441Gly
ENST00000696584.1:n.1885A>G
ENST00000696585.1:n.2004A>G
ENST00000696586.1:n.1778A>G
ENST00000696587.1:c.1241A>G	ENSP00000512737.1:p.Glu414Gly
ENST00000696588.1:c.752A>G	ENSP00000513251.1:p.Glu251Gly
ENST00000696589.1:n.1136A>G
ENST00000696590.1:n.2387A>G
ENST00000696591.1:n.710A>G
ENST00000696592.1:n.3642A>G
ENST00000696627.1:c.*187A>G	ENSP00000512764.1:n.*187A>G
ENST00000696628.1:c.1361A>G	ENSP00000512765.1:p.Glu454Gly
ENST00000369550.10:c.1361A>G MANE Select	ENSP00000358563.5:p.Glu454Gly
ENST00000369550.9:c.1361A>G	ENSP00000358563.5:p.Glu454Gly
ENST00000412124.5:c.619A>G
ENST00000426673.5:c.780A>G
ENST00000475966.1:n.850A>G
ENST00000492372.1:n.178A>G
ENST00000620277.4:c.*587A>G	ENSP00000478387.1:n.*587A>G
NM_001142463.2:c.1346A>G	NP_001135935.1:p.Glu449Gly
NM_001288747.1:c.*587A>G	NP_001275676.1:n.*587A>G
NM_001363.4:c.1361A>G	NP_001354.1:p.Glu454Gly
NR_110021.1:n.2062A>G
NR_110022.1:n.2181A>G
NR_110023.1:n.1955A>G
NM_001363.5:c.1361A>G MANE Select	NP_001354.1:p.Glu454Gly
NM_001142463.3:c.1346A>G	NP_001135935.1:p.Glu449Gly
NR_110021.2:n.1940A>G
NR_110022.2:n.2059A>G
NR_110023.2:n.1833A>G
NM_001288747.2:c.*587A>G	NP_001275676.1:n.*587A>G