Canonical Allele Identifier: CA414896226

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001522A>C (hg19) ; chrX:g.154773247A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773247A>C , CM000685.2:g.154773247A>C	GRCh38
NC_000023.10:g.154001522A>C , CM000685.1:g.154001522A>C	GRCh37
NC_000023.9:g.153654716A>C	NCBI36
NG_009780.1:g.15492A>C , LRG_55:g.15492A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1033A>C	ENSP00000400542.2:p.Lys345Gln
ENST00000426673.6:c.*536A>C	ENSP00000407253.3:n.*536A>C
ENST00000484317.6:n.938A>C
ENST00000696575.1:c.1153A>C	ENSP00000512730.1:p.Lys385Gln
ENST00000696577.1:c.1153A>C	ENSP00000512731.1:p.Lys385Gln
ENST00000696578.1:c.*105A>C	ENSP00000512732.1:n.*105A>C
ENST00000696579.1:n.1255A>C
ENST00000696580.1:c.1066A>C	ENSP00000512733.1:p.Lys356Gln
ENST00000696581.1:c.*1127A>C	ENSP00000512734.1:n.*1127A>C
ENST00000696582.1:c.*359A>C	ENSP00000512735.1:n.*359A>C
ENST00000696583.1:c.1114A>C	ENSP00000512736.1:p.Lys372Gln
ENST00000696584.1:n.1677A>C
ENST00000696585.1:n.1796A>C
ENST00000696586.1:n.1570A>C
ENST00000696587.1:c.1033A>C	ENSP00000512737.1:p.Lys345Gln
ENST00000696588.1:c.544A>C	ENSP00000513251.1:p.Lys182Gln
ENST00000696589.1:n.928A>C
ENST00000696590.1:n.777A>C
ENST00000696591.1:n.502A>C
ENST00000696592.1:n.2032A>C
ENST00000696627.1:c.1153A>C	ENSP00000512764.1:p.Lys385Gln
ENST00000696628.1:c.1153A>C	ENSP00000512765.1:p.Lys385Gln
ENST00000369550.10:c.1153A>C MANE Select	ENSP00000358563.5:p.Lys385Gln
ENST00000369550.9:c.1153A>C	ENSP00000358563.5:p.Lys385Gln
ENST00000412124.5:c.411A>C
ENST00000426673.5:c.513A>C
ENST00000475966.1:n.642A>C
ENST00000481062.1:n.104A>C
ENST00000620277.4:c.1153A>C	ENSP00000478387.1:p.Lys385Gln
NM_001142463.2:c.1153A>C	NP_001135935.1:p.Lys385Gln
NM_001288747.1:c.1153A>C	NP_001275676.1:p.Lys385Gln
NM_001363.4:c.1153A>C	NP_001354.1:p.Lys385Gln
NR_110021.1:n.1854A>C
NR_110022.1:n.1973A>C
NR_110023.1:n.1747A>C
NM_001363.5:c.1153A>C MANE Select	NP_001354.1:p.Lys385Gln
NM_001142463.3:c.1153A>C	NP_001135935.1:p.Lys385Gln
NR_110021.2:n.1732A>C
NR_110022.2:n.1851A>C
NR_110023.2:n.1625A>C
NM_001288747.2:c.1153A>C	NP_001275676.1:p.Lys385Gln