Canonical Allele Identifier: CA10567153

Gene: DKC1

Linked Data

• ClinVar Variation Id: 697743
• ClinVar RCV Id: RCV001506194
• dbSNP Id: rs781915787
• ExAC: X:154001443 C / T
• gnomAD v2: X-154001443-C-T
• gnomAD v3: X-154773168-C-T
• gnomAD v4: X-154773168-C-T
• COSMIC: COSM5064561
• MyVariant Identifiers: chrX:g.154001443C>T (hg19) ; chrX:g.154773168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773168C>T , CM000685.2:g.154773168C>T	GRCh38
NC_000023.10:g.154001443C>T , CM000685.1:g.154001443C>T	GRCh37
NC_000023.9:g.153654637C>T	NCBI36
NG_009780.1:g.15413C>T , LRG_55:g.15413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.954C>T	ENSP00000400542.2:p.Cys318=
ENST00000426673.6:c.*457C>T	ENSP00000407253.3:n.*457C>T
ENST00000484317.6:n.859C>T
ENST00000696575.1:c.1074C>T	ENSP00000512730.1:p.Cys358=
ENST00000696577.1:c.1074C>T	ENSP00000512731.1:p.Cys358=
ENST00000696578.1:c.*26C>T	ENSP00000512732.1:n.*26C>T
ENST00000696579.1:n.1176C>T
ENST00000696580.1:c.987C>T	ENSP00000512733.1:p.Cys329=
ENST00000696581.1:c.*1048C>T	ENSP00000512734.1:n.*1048C>T
ENST00000696582.1:c.*280C>T	ENSP00000512735.1:n.*280C>T
ENST00000696583.1:c.1035C>T	ENSP00000512736.1:p.Cys345=
ENST00000696584.1:n.1598C>T
ENST00000696585.1:n.1717C>T
ENST00000696586.1:n.1491C>T
ENST00000696587.1:c.954C>T	ENSP00000512737.1:p.Cys318=
ENST00000696588.1:c.465C>T	ENSP00000513251.1:p.Cys155=
ENST00000696589.1:n.849C>T
ENST00000696590.1:n.698C>T
ENST00000696591.1:n.423C>T
ENST00000696592.1:n.1953C>T
ENST00000696627.1:c.1074C>T	ENSP00000512764.1:p.Cys358=
ENST00000696628.1:c.1074C>T	ENSP00000512765.1:p.Cys358=
ENST00000369550.10:c.1074C>T MANE Select	ENSP00000358563.5:p.Cys358=
ENST00000369550.9:c.1074C>T	ENSP00000358563.5:p.Cys358=
ENST00000412124.5:c.332C>T
ENST00000426673.5:c.434C>T
ENST00000475966.1:n.563C>T
ENST00000481062.1:n.25C>T
ENST00000620277.4:c.1074C>T	ENSP00000478387.1:p.Cys358=
NM_001142463.2:c.1074C>T	NP_001135935.1:p.Cys358=
NM_001288747.1:c.1074C>T	NP_001275676.1:p.Cys358=
NM_001363.4:c.1074C>T	NP_001354.1:p.Cys358=
NR_110021.1:n.1775C>T
NR_110022.1:n.1894C>T
NR_110023.1:n.1668C>T
NM_001363.5:c.1074C>T MANE Select	NP_001354.1:p.Cys358=
NM_001142463.3:c.1074C>T	NP_001135935.1:p.Cys358=
NR_110021.2:n.1653C>T
NR_110022.2:n.1772C>T
NR_110023.2:n.1546C>T
NM_001288747.2:c.1074C>T	NP_001275676.1:p.Cys358=