Canonical Allele Identifier: CA519357801

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001431C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773156C>T , CM000685.2:g.154773156C>T	GRCh38
NC_000023.10:g.154001431C>T , CM000685.1:g.154001431C>T	GRCh37
NC_000023.9:g.153654625C>T	NCBI36
NG_009780.1:g.15401C>T , LRG_55:g.15401C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.942C>T	ENSP00000400542.2:p.Val314=
ENST00000426673.6:c.*445C>T	ENSP00000407253.3:n.*445C>T
ENST00000484317.6:n.847C>T
ENST00000696575.1:c.1062C>T	ENSP00000512730.1:p.Val354=
ENST00000696577.1:c.1062C>T	ENSP00000512731.1:p.Val354=
ENST00000696578.1:c.*14C>T	ENSP00000512732.1:n.*14C>T
ENST00000696579.1:n.1164C>T
ENST00000696580.1:c.975C>T	ENSP00000512733.1:p.Val325=
ENST00000696581.1:c.*1036C>T	ENSP00000512734.1:n.*1036C>T
ENST00000696582.1:c.*268C>T	ENSP00000512735.1:n.*268C>T
ENST00000696583.1:c.1023C>T	ENSP00000512736.1:p.Val341=
ENST00000696584.1:n.1586C>T
ENST00000696585.1:n.1705C>T
ENST00000696586.1:n.1479C>T
ENST00000696587.1:c.942C>T	ENSP00000512737.1:p.Val314=
ENST00000696588.1:c.453C>T	ENSP00000513251.1:p.Val151=
ENST00000696589.1:n.837C>T
ENST00000696590.1:n.686C>T
ENST00000696591.1:n.411C>T
ENST00000696592.1:n.1941C>T
ENST00000696627.1:c.1062C>T	ENSP00000512764.1:p.Val354=
ENST00000696628.1:c.1062C>T	ENSP00000512765.1:p.Val354=
ENST00000369550.10:c.1062C>T MANE Select	ENSP00000358563.5:p.Val354=
ENST00000369550.9:c.1062C>T	ENSP00000358563.5:p.Val354=
ENST00000412124.5:c.320C>T
ENST00000426673.5:c.422C>T
ENST00000475966.1:n.551C>T
ENST00000481062.1:n.13C>T
ENST00000620277.4:c.1062C>T	ENSP00000478387.1:p.Val354=
NM_001142463.2:c.1062C>T	NP_001135935.1:p.Val354=
NM_001288747.1:c.1062C>T	NP_001275676.1:p.Val354=
NM_001363.4:c.1062C>T	NP_001354.1:p.Val354=
NR_110021.1:n.1763C>T
NR_110022.1:n.1882C>T
NR_110023.1:n.1656C>T
NM_001363.5:c.1062C>T MANE Select	NP_001354.1:p.Val354=
NM_001142463.3:c.1062C>T	NP_001135935.1:p.Val354=
NR_110021.2:n.1641C>T
NR_110022.2:n.1760C>T
NR_110023.2:n.1534C>T
NM_001288747.2:c.1062C>T	NP_001275676.1:p.Val354=