Canonical Allele Identifier: CA414899915

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004534A>C (hg19) ; chrX:g.154776259A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776259A>C , CM000685.2:g.154776259A>C	GRCh38
NC_000023.10:g.154004534A>C , CM000685.1:g.154004534A>C	GRCh37
NC_000023.9:g.153657728A>C	NCBI36
NG_009780.1:g.18504A>C , LRG_55:g.18504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*207A>C	ENSP00000400542.2:n.*207A>C
ENST00000426673.6:c.*853A>C	ENSP00000407253.3:n.*853A>C
ENST00000484317.6:n.1685A>C
ENST00000492372.2:n.349A>C
ENST00000696575.1:c.1396A>C	ENSP00000512730.1:p.Lys466Gln
ENST00000696577.1:c.1411A>C	ENSP00000512731.1:p.Lys471Gln
ENST00000696578.1:c.*363A>C	ENSP00000512732.1:n.*363A>C
ENST00000696579.1:n.2426A>C
ENST00000696580.1:c.1324A>C	ENSP00000512733.1:p.Lys442Gln
ENST00000696581.1:c.*1385A>C	ENSP00000512734.1:n.*1385A>C
ENST00000696582.1:c.*617A>C	ENSP00000512735.1:n.*617A>C
ENST00000696583.1:c.1372A>C	ENSP00000512736.1:p.Lys458Gln
ENST00000696584.1:n.1935A>C
ENST00000696585.1:n.2054A>C
ENST00000696586.1:n.1828A>C
ENST00000696587.1:c.1291A>C	ENSP00000512737.1:p.Lys431Gln
ENST00000696588.1:c.802A>C	ENSP00000513251.1:p.Lys268Gln
ENST00000696589.1:n.1186A>C
ENST00000696590.1:n.2437A>C
ENST00000696591.1:n.760A>C
ENST00000696592.1:n.3692A>C
ENST00000696627.1:c.*237A>C	ENSP00000512764.1:n.*237A>C
ENST00000696628.1:c.1411A>C	ENSP00000512765.1:p.Lys471Gln
ENST00000369550.10:c.1411A>C MANE Select	ENSP00000358563.5:p.Lys471Gln
ENST00000369550.9:c.1411A>C	ENSP00000358563.5:p.Lys471Gln
ENST00000412124.5:c.669A>C
ENST00000426673.5:c.830A>C
ENST00000475966.1:n.900A>C
ENST00000492372.1:n.228A>C
ENST00000620277.4:c.*637A>C	ENSP00000478387.1:n.*637A>C
NM_001142463.2:c.1396A>C	NP_001135935.1:p.Lys466Gln
NM_001288747.1:c.*637A>C	NP_001275676.1:n.*637A>C
NM_001363.4:c.1411A>C	NP_001354.1:p.Lys471Gln
NR_110021.1:n.2112A>C
NR_110022.1:n.2231A>C
NR_110023.1:n.2005A>C
NM_001363.5:c.1411A>C MANE Select	NP_001354.1:p.Lys471Gln
NM_001142463.3:c.1396A>C	NP_001135935.1:p.Lys466Gln
NR_110021.2:n.1990A>C
NR_110022.2:n.2109A>C
NR_110023.2:n.1883A>C
NM_001288747.2:c.*637A>C	NP_001275676.1:n.*637A>C