Canonical Allele Identifier: CA343223

Gene: DKC1

Linked Data

• ClinVar Variation Id: 38941
• ClinVar RCV Id: RCV000032192 ; RCV000255428 ; RCV001048156
• dbSNP Id: rs199422254
• MyVariant Identifiers: chrX:g.154002944C>T (hg19) ; chrX:g.154774669C>T (hg38)
• PubMed: PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154774669C>T , CM000685.2:g.154774669C>T	GRCh38
NC_000023.10:g.154002944C>T , CM000685.1:g.154002944C>T	GRCh37
NC_000023.9:g.153656138C>T	NCBI36
NG_009780.1:g.16914C>T , LRG_55:g.16914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1103C>T	ENSP00000400542.2:p.Thr368Ile
ENST00000426673.6:c.*606C>T	ENSP00000407253.3:n.*606C>T
ENST00000484317.6:n.1008C>T
ENST00000696575.1:c.1223C>T	ENSP00000512730.1:p.Thr408Ile
ENST00000696577.1:c.1223C>T	ENSP00000512731.1:p.Thr408Ile
ENST00000696578.1:c.*175C>T	ENSP00000512732.1:n.*175C>T
ENST00000696579.1:n.1325C>T
ENST00000696580.1:c.1136C>T	ENSP00000512733.1:p.Thr379Ile
ENST00000696581.1:c.*1197C>T	ENSP00000512734.1:n.*1197C>T
ENST00000696582.1:c.*429C>T	ENSP00000512735.1:n.*429C>T
ENST00000696583.1:c.1184C>T	ENSP00000512736.1:p.Thr395Ile
ENST00000696584.1:n.1747C>T
ENST00000696585.1:n.1866C>T
ENST00000696586.1:n.1640C>T
ENST00000696587.1:c.1103C>T	ENSP00000512737.1:p.Thr368Ile
ENST00000696588.1:c.614C>T	ENSP00000513251.1:p.Thr205Ile
ENST00000696589.1:n.998C>T
ENST00000696590.1:n.847C>T
ENST00000696591.1:n.572C>T
ENST00000696592.1:n.2102C>T
ENST00000696627.1:c.*49C>T	ENSP00000512764.1:n.*49C>T
ENST00000696628.1:c.1223C>T	ENSP00000512765.1:p.Thr408Ile
ENST00000369550.10:c.1223C>T MANE Select	ENSP00000358563.5:p.Thr408Ile
ENST00000369550.9:c.1223C>T	ENSP00000358563.5:p.Thr408Ile
ENST00000412124.5:c.481C>T
ENST00000426673.5:c.583C>T
ENST00000475966.1:n.712C>T
ENST00000481062.1:n.174C>T
ENST00000620277.4:c.1223C>T	ENSP00000478387.1:p.Thr408Ile
NM_001142463.2:c.1223C>T	NP_001135935.1:p.Thr408Ile
NM_001288747.1:c.1223C>T	NP_001275676.1:p.Thr408Ile
NM_001363.4:c.1223C>T	NP_001354.1:p.Thr408Ile
NR_110021.1:n.1924C>T
NR_110022.1:n.2043C>T
NR_110023.1:n.1817C>T
NM_001363.5:c.1223C>T MANE Select	NP_001354.1:p.Thr408Ile
NM_001142463.3:c.1223C>T	NP_001135935.1:p.Thr408Ile
NR_110021.2:n.1802C>T
NR_110022.2:n.1921C>T
NR_110023.2:n.1695C>T
NM_001288747.2:c.1223C>T	NP_001275676.1:p.Thr408Ile