Canonical Allele Identifier: CA414891662

Gene: DKC1

Linked Data

• dbSNP Id: rs2071791797
• COSMIC: COSM6356756
• MyVariant Identifiers: chrX:g.153997562C>T (hg19) ; chrX:g.154769287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769287C>T , CM000685.2:g.154769287C>T	GRCh38
NC_000023.10:g.153997562C>T , CM000685.1:g.153997562C>T	GRCh37
NC_000023.9:g.153650756C>T	NCBI36
NG_009780.1:g.11532C>T , LRG_55:g.11532C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.772C>T	ENSP00000400542.2:p.Arg258Trp
ENST00000426673.6:c.*275C>T	ENSP00000407253.3:n.*275C>T
ENST00000484317.6:n.677C>T
ENST00000696575.1:c.892C>T	ENSP00000512730.1:p.Arg298Trp
ENST00000696576.1:n.994C>T
ENST00000696577.1:c.892C>T	ENSP00000512731.1:p.Arg298Trp
ENST00000696578.1:c.892C>T	ENSP00000512732.1:p.Arg298Trp
ENST00000696579.1:n.994C>T
ENST00000696580.1:c.805C>T	ENSP00000512733.1:p.Arg269Trp
ENST00000696581.1:c.*866C>T	ENSP00000512734.1:n.*866C>T
ENST00000696582.1:c.*98C>T	ENSP00000512735.1:n.*98C>T
ENST00000696583.1:c.853C>T	ENSP00000512736.1:p.Arg285Trp
ENST00000696584.1:n.1416C>T
ENST00000696585.1:n.1535C>T
ENST00000696586.1:n.1309C>T
ENST00000696587.1:c.772C>T	ENSP00000512737.1:p.Arg258Trp
ENST00000696588.1:c.283C>T	ENSP00000513251.1:p.Arg95Trp
ENST00000696589.1:n.667C>T
ENST00000696590.1:n.516C>T
ENST00000696591.1:n.241C>T
ENST00000696627.1:c.892C>T	ENSP00000512764.1:p.Arg298Trp
ENST00000696628.1:c.892C>T	ENSP00000512765.1:p.Arg298Trp
ENST00000369550.10:c.892C>T MANE Select	ENSP00000358563.5:p.Arg298Trp
ENST00000369550.9:c.892C>T	ENSP00000358563.5:p.Arg298Trp
ENST00000412124.5:c.174-1472C>T
ENST00000413910.5:c.772C>T	ENSP00000400542.1:p.Arg258Trp
ENST00000426673.5:c.252C>T
ENST00000475966.1:n.381C>T
ENST00000484317.5:n.530C>T
ENST00000620277.4:c.892C>T	ENSP00000478387.1:p.Arg298Trp
NM_001142463.2:c.892C>T	NP_001135935.1:p.Arg298Trp
NM_001288747.1:c.892C>T	NP_001275676.1:p.Arg298Trp
NM_001363.4:c.892C>T	NP_001354.1:p.Arg298Trp
NR_110021.1:n.1593C>T
NR_110022.1:n.1712C>T
NR_110023.1:n.1486C>T
NM_001363.5:c.892C>T MANE Select	NP_001354.1:p.Arg298Trp
NM_001142463.3:c.892C>T	NP_001135935.1:p.Arg298Trp
NR_110021.2:n.1471C>T
NR_110022.2:n.1590C>T
NR_110023.2:n.1364C>T
NM_001288747.2:c.892C>T	NP_001275676.1:p.Arg298Trp