Canonical Allele Identifier: CA519357906

Gene: DKC1

Linked Data

• COSMIC: COSM4108209
• MyVariant Identifiers: chrX:g.154001491C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773216C>T , CM000685.2:g.154773216C>T	GRCh38
NC_000023.10:g.154001491C>T , CM000685.1:g.154001491C>T	GRCh37
NC_000023.9:g.153654685C>T	NCBI36
NG_009780.1:g.15461C>T , LRG_55:g.15461C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1002C>T	ENSP00000400542.2:p.Asp334=
ENST00000426673.6:c.*505C>T	ENSP00000407253.3:n.*505C>T
ENST00000484317.6:n.907C>T
ENST00000696575.1:c.1122C>T	ENSP00000512730.1:p.Asp374=
ENST00000696577.1:c.1122C>T	ENSP00000512731.1:p.Asp374=
ENST00000696578.1:c.*74C>T	ENSP00000512732.1:n.*74C>T
ENST00000696579.1:n.1224C>T
ENST00000696580.1:c.1035C>T	ENSP00000512733.1:p.Asp345=
ENST00000696581.1:c.*1096C>T	ENSP00000512734.1:n.*1096C>T
ENST00000696582.1:c.*328C>T	ENSP00000512735.1:n.*328C>T
ENST00000696583.1:c.1083C>T	ENSP00000512736.1:p.Asp361=
ENST00000696584.1:n.1646C>T
ENST00000696585.1:n.1765C>T
ENST00000696586.1:n.1539C>T
ENST00000696587.1:c.1002C>T	ENSP00000512737.1:p.Asp334=
ENST00000696588.1:c.513C>T	ENSP00000513251.1:p.Asp171=
ENST00000696589.1:n.897C>T
ENST00000696590.1:n.746C>T
ENST00000696591.1:n.471C>T
ENST00000696592.1:n.2001C>T
ENST00000696627.1:c.1122C>T	ENSP00000512764.1:p.Asp374=
ENST00000696628.1:c.1122C>T	ENSP00000512765.1:p.Asp374=
ENST00000369550.10:c.1122C>T MANE Select	ENSP00000358563.5:p.Asp374=
ENST00000369550.9:c.1122C>T	ENSP00000358563.5:p.Asp374=
ENST00000412124.5:c.380C>T
ENST00000426673.5:c.482C>T
ENST00000475966.1:n.611C>T
ENST00000481062.1:n.73C>T
ENST00000620277.4:c.1122C>T	ENSP00000478387.1:p.Asp374=
NM_001142463.2:c.1122C>T	NP_001135935.1:p.Asp374=
NM_001288747.1:c.1122C>T	NP_001275676.1:p.Asp374=
NM_001363.4:c.1122C>T	NP_001354.1:p.Asp374=
NR_110021.1:n.1823C>T
NR_110022.1:n.1942C>T
NR_110023.1:n.1716C>T
NM_001363.5:c.1122C>T MANE Select	NP_001354.1:p.Asp374=
NM_001142463.3:c.1122C>T	NP_001135935.1:p.Asp374=
NR_110021.2:n.1701C>T
NR_110022.2:n.1820C>T
NR_110023.2:n.1594C>T
NM_001288747.2:c.1122C>T	NP_001275676.1:p.Asp374=