Canonical Allele Identifier: CA414900263

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004565C>T (hg19) ; chrX:g.154776290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776290C>T , CM000685.2:g.154776290C>T	GRCh38
NC_000023.10:g.154004565C>T , CM000685.1:g.154004565C>T	GRCh37
NC_000023.9:g.153657759C>T	NCBI36
NG_009780.1:g.18535C>T , LRG_55:g.18535C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*238C>T	ENSP00000400542.2:n.*238C>T
ENST00000426673.6:c.*884C>T	ENSP00000407253.3:n.*884C>T
ENST00000484317.6:n.1716C>T
ENST00000492372.2:n.380C>T
ENST00000696575.1:c.1427C>T	ENSP00000512730.1:p.Ala476Val
ENST00000696577.1:c.1442C>T	ENSP00000512731.1:p.Ala481Val
ENST00000696578.1:c.*394C>T	ENSP00000512732.1:n.*394C>T
ENST00000696579.1:n.2457C>T
ENST00000696580.1:c.1355C>T	ENSP00000512733.1:p.Ala452Val
ENST00000696581.1:c.*1416C>T	ENSP00000512734.1:n.*1416C>T
ENST00000696582.1:c.*648C>T	ENSP00000512735.1:n.*648C>T
ENST00000696583.1:c.1403C>T	ENSP00000512736.1:p.Ala468Val
ENST00000696584.1:n.1966C>T
ENST00000696585.1:n.2085C>T
ENST00000696586.1:n.1859C>T
ENST00000696587.1:c.1322C>T	ENSP00000512737.1:p.Ala441Val
ENST00000696588.1:c.833C>T	ENSP00000513251.1:p.Ala278Val
ENST00000696589.1:n.1217C>T
ENST00000696590.1:n.2468C>T
ENST00000696591.1:n.791C>T
ENST00000696592.1:n.3723C>T
ENST00000696627.1:c.*268C>T	ENSP00000512764.1:n.*268C>T
ENST00000696628.1:c.1442C>T	ENSP00000512765.1:p.Ala481Val
ENST00000369550.10:c.1442C>T MANE Select	ENSP00000358563.5:p.Ala481Val
ENST00000369550.9:c.1442C>T	ENSP00000358563.5:p.Ala481Val
ENST00000492372.1:n.259C>T
ENST00000620277.4:c.*668C>T	ENSP00000478387.1:n.*668C>T
NM_001142463.2:c.1427C>T	NP_001135935.1:p.Ala476Val
NM_001288747.1:c.*668C>T	NP_001275676.1:n.*668C>T
NM_001363.4:c.1442C>T	NP_001354.1:p.Ala481Val
NR_110021.1:n.2143C>T
NR_110022.1:n.2262C>T
NR_110023.1:n.2036C>T
NM_001363.5:c.1442C>T MANE Select	NP_001354.1:p.Ala481Val
NM_001142463.3:c.1427C>T	NP_001135935.1:p.Ala476Val
NR_110021.2:n.2021C>T
NR_110022.2:n.2140C>T
NR_110023.2:n.1914C>T
NM_001288747.2:c.*668C>T	NP_001275676.1:n.*668C>T