Canonical Allele Identifier: CA414896150

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001513T>G (hg19) ; chrX:g.154773238T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773238T>G , CM000685.2:g.154773238T>G	GRCh38
NC_000023.10:g.154001513T>G , CM000685.1:g.154001513T>G	GRCh37
NC_000023.9:g.153654707T>G	NCBI36
NG_009780.1:g.15483T>G , LRG_55:g.15483T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1024T>G	ENSP00000400542.2:p.Leu342Val
ENST00000426673.6:c.*527T>G	ENSP00000407253.3:n.*527T>G
ENST00000484317.6:n.929T>G
ENST00000696575.1:c.1144T>G	ENSP00000512730.1:p.Leu382Val
ENST00000696577.1:c.1144T>G	ENSP00000512731.1:p.Leu382Val
ENST00000696578.1:c.*96T>G	ENSP00000512732.1:n.*96T>G
ENST00000696579.1:n.1246T>G
ENST00000696580.1:c.1057T>G	ENSP00000512733.1:p.Leu353Val
ENST00000696581.1:c.*1118T>G	ENSP00000512734.1:n.*1118T>G
ENST00000696582.1:c.*350T>G	ENSP00000512735.1:n.*350T>G
ENST00000696583.1:c.1105T>G	ENSP00000512736.1:p.Leu369Val
ENST00000696584.1:n.1668T>G
ENST00000696585.1:n.1787T>G
ENST00000696586.1:n.1561T>G
ENST00000696587.1:c.1024T>G	ENSP00000512737.1:p.Leu342Val
ENST00000696588.1:c.535T>G	ENSP00000513251.1:p.Leu179Val
ENST00000696589.1:n.919T>G
ENST00000696590.1:n.768T>G
ENST00000696591.1:n.493T>G
ENST00000696592.1:n.2023T>G
ENST00000696627.1:c.1144T>G	ENSP00000512764.1:p.Leu382Val
ENST00000696628.1:c.1144T>G	ENSP00000512765.1:p.Leu382Val
ENST00000369550.10:c.1144T>G MANE Select	ENSP00000358563.5:p.Leu382Val
ENST00000369550.9:c.1144T>G	ENSP00000358563.5:p.Leu382Val
ENST00000412124.5:c.402T>G
ENST00000426673.5:c.504T>G
ENST00000475966.1:n.633T>G
ENST00000481062.1:n.95T>G
ENST00000620277.4:c.1144T>G	ENSP00000478387.1:p.Leu382Val
NM_001142463.2:c.1144T>G	NP_001135935.1:p.Leu382Val
NM_001288747.1:c.1144T>G	NP_001275676.1:p.Leu382Val
NM_001363.4:c.1144T>G	NP_001354.1:p.Leu382Val
NR_110021.1:n.1845T>G
NR_110022.1:n.1964T>G
NR_110023.1:n.1738T>G
NM_001363.5:c.1144T>G MANE Select	NP_001354.1:p.Leu382Val
NM_001142463.3:c.1144T>G	NP_001135935.1:p.Leu382Val
NR_110021.2:n.1723T>G
NR_110022.2:n.1842T>G
NR_110023.2:n.1616T>G
NM_001288747.2:c.1144T>G	NP_001275676.1:p.Leu382Val