Canonical Allele Identifier: CA519356146

Gene: DKC1

Linked Data

• ClinVar Variation Id: 2161536
• ClinVar RCV Id: RCV003089544
• MyVariant Identifiers: chrX:g.153997552A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769277A>G , CM000685.2:g.154769277A>G	GRCh38
NC_000023.10:g.153997552A>G , CM000685.1:g.153997552A>G	GRCh37
NC_000023.9:g.153650746A>G	NCBI36
NG_009780.1:g.11522A>G , LRG_55:g.11522A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.762A>G	ENSP00000400542.2:p.Thr254=
ENST00000426673.6:c.*265A>G	ENSP00000407253.3:n.*265A>G
ENST00000484317.6:n.667A>G
ENST00000696575.1:c.882A>G	ENSP00000512730.1:p.Thr294=
ENST00000696576.1:n.984A>G
ENST00000696577.1:c.882A>G	ENSP00000512731.1:p.Thr294=
ENST00000696578.1:c.882A>G	ENSP00000512732.1:p.Thr294=
ENST00000696579.1:n.984A>G
ENST00000696580.1:c.795A>G	ENSP00000512733.1:p.Thr265=
ENST00000696581.1:c.*856A>G	ENSP00000512734.1:n.*856A>G
ENST00000696582.1:c.*88A>G	ENSP00000512735.1:n.*88A>G
ENST00000696583.1:c.843A>G	ENSP00000512736.1:p.Thr281=
ENST00000696584.1:n.1406A>G
ENST00000696585.1:n.1525A>G
ENST00000696586.1:n.1299A>G
ENST00000696587.1:c.762A>G	ENSP00000512737.1:p.Thr254=
ENST00000696588.1:c.273A>G	ENSP00000513251.1:p.Thr91=
ENST00000696589.1:n.657A>G
ENST00000696590.1:n.506A>G
ENST00000696591.1:n.231A>G
ENST00000696627.1:c.882A>G	ENSP00000512764.1:p.Thr294=
ENST00000696628.1:c.882A>G	ENSP00000512765.1:p.Thr294=
ENST00000369550.10:c.882A>G MANE Select	ENSP00000358563.5:p.Thr294=
ENST00000369550.9:c.882A>G	ENSP00000358563.5:p.Thr294=
ENST00000412124.5:c.174-1482A>G
ENST00000413910.5:c.762A>G	ENSP00000400542.1:p.Thr254=
ENST00000426673.5:c.242A>G
ENST00000475966.1:n.371A>G
ENST00000484317.5:n.520A>G
ENST00000620277.4:c.882A>G	ENSP00000478387.1:p.Thr294=
NM_001142463.2:c.882A>G	NP_001135935.1:p.Thr294=
NM_001288747.1:c.882A>G	NP_001275676.1:p.Thr294=
NM_001363.4:c.882A>G	NP_001354.1:p.Thr294=
NR_110021.1:n.1583A>G
NR_110022.1:n.1702A>G
NR_110023.1:n.1476A>G
NM_001363.5:c.882A>G MANE Select	NP_001354.1:p.Thr294=
NM_001142463.3:c.882A>G	NP_001135935.1:p.Thr294=
NR_110021.2:n.1461A>G
NR_110022.2:n.1580A>G
NR_110023.2:n.1354A>G
NM_001288747.2:c.882A>G	NP_001275676.1:p.Thr294=