Canonical Allele Identifier: CA414899326

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004471G>T (hg19) ; chrX:g.154776196G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776196G>T , CM000685.2:g.154776196G>T	GRCh38
NC_000023.10:g.154004471G>T , CM000685.1:g.154004471G>T	GRCh37
NC_000023.9:g.153657665G>T	NCBI36
NG_009780.1:g.18441G>T , LRG_55:g.18441G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.*144G>T	ENSP00000400542.2:n.*144G>T
ENST00000426673.6:c.*790G>T	ENSP00000407253.3:n.*790G>T
ENST00000484317.6:n.1622G>T
ENST00000492372.2:n.286G>T
ENST00000696575.1:c.1333G>T	ENSP00000512730.1:p.Glu445Ter
ENST00000696577.1:c.1348G>T	ENSP00000512731.1:p.Glu450Ter
ENST00000696578.1:c.*300G>T	ENSP00000512732.1:n.*300G>T
ENST00000696579.1:n.2363G>T
ENST00000696580.1:c.1261G>T	ENSP00000512733.1:p.Glu421Ter
ENST00000696581.1:c.*1322G>T	ENSP00000512734.1:n.*1322G>T
ENST00000696582.1:c.*554G>T	ENSP00000512735.1:n.*554G>T
ENST00000696583.1:c.1309G>T	ENSP00000512736.1:p.Glu437Ter
ENST00000696584.1:n.1872G>T
ENST00000696585.1:n.1991G>T
ENST00000696586.1:n.1765G>T
ENST00000696587.1:c.1228G>T	ENSP00000512737.1:p.Glu410Ter
ENST00000696588.1:c.739G>T	ENSP00000513251.1:p.Glu247Ter
ENST00000696589.1:n.1123G>T
ENST00000696590.1:n.2374G>T
ENST00000696591.1:n.697G>T
ENST00000696592.1:n.3629G>T
ENST00000696627.1:c.*174G>T	ENSP00000512764.1:n.*174G>T
ENST00000696628.1:c.1348G>T	ENSP00000512765.1:p.Glu450Ter
ENST00000369550.10:c.1348G>T MANE Select	ENSP00000358563.5:p.Glu450Ter
ENST00000369550.9:c.1348G>T	ENSP00000358563.5:p.Glu450Ter
ENST00000412124.5:c.606G>T
ENST00000426673.5:c.767G>T
ENST00000475966.1:n.837G>T
ENST00000492372.1:n.165G>T
ENST00000620277.4:c.*574G>T	ENSP00000478387.1:n.*574G>T
NM_001142463.2:c.1333G>T	NP_001135935.1:p.Glu445Ter
NM_001288747.1:c.*574G>T	NP_001275676.1:n.*574G>T
NM_001363.4:c.1348G>T	NP_001354.1:p.Glu450Ter
NR_110021.1:n.2049G>T
NR_110022.1:n.2168G>T
NR_110023.1:n.1942G>T
NM_001363.5:c.1348G>T MANE Select	NP_001354.1:p.Glu450Ter
NM_001142463.3:c.1333G>T	NP_001135935.1:p.Glu445Ter
NR_110021.2:n.1927G>T
NR_110022.2:n.2046G>T
NR_110023.2:n.1820G>T
NM_001288747.2:c.*574G>T	NP_001275676.1:n.*574G>T