Canonical Allele Identifier: CA414891127

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997463G>T (hg19) ; chrX:g.154769188G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769188G>T , CM000685.2:g.154769188G>T	GRCh38
NC_000023.10:g.153997463G>T , CM000685.1:g.153997463G>T	GRCh37
NC_000023.9:g.153650657G>T	NCBI36
NG_009780.1:g.11433G>T , LRG_55:g.11433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.673G>T	ENSP00000400542.2:p.Asp225Tyr
ENST00000426673.6:c.*176G>T	ENSP00000407253.3:n.*176G>T
ENST00000484317.6:n.578G>T
ENST00000696575.1:c.793G>T	ENSP00000512730.1:p.Asp265Tyr
ENST00000696576.1:n.895G>T
ENST00000696577.1:c.793G>T	ENSP00000512731.1:p.Asp265Tyr
ENST00000696578.1:c.793G>T	ENSP00000512732.1:p.Asp265Tyr
ENST00000696579.1:n.895G>T
ENST00000696580.1:c.706G>T	ENSP00000512733.1:p.Asp236Tyr
ENST00000696581.1:c.*767G>T	ENSP00000512734.1:n.*767G>T
ENST00000696582.1:c.662G>T	ENSP00000512735.1:p.Ter221Leu
ENST00000696583.1:c.772-18G>T	ENSP00000512736.1:n.772-18G>T
ENST00000696584.1:n.1317G>T
ENST00000696585.1:n.1436G>T
ENST00000696586.1:n.1210G>T
ENST00000696587.1:c.673G>T	ENSP00000512737.1:p.Asp225Tyr
ENST00000696588.1:c.184G>T	ENSP00000513251.1:p.Asp62Tyr
ENST00000696589.1:n.568G>T
ENST00000696590.1:n.417G>T
ENST00000696591.1:n.142G>T
ENST00000696627.1:c.793G>T	ENSP00000512764.1:p.Asp265Tyr
ENST00000696628.1:c.793G>T	ENSP00000512765.1:p.Asp265Tyr
ENST00000369550.10:c.793G>T MANE Select	ENSP00000358563.5:p.Asp265Tyr
ENST00000369550.9:c.793G>T	ENSP00000358563.5:p.Asp265Tyr
ENST00000412124.5:c.174-1571G>T
ENST00000413910.5:c.673G>T	ENSP00000400542.1:p.Asp225Tyr
ENST00000426673.5:c.153G>T
ENST00000452771.5:c.686G>T	ENSP00000407325.1:n.686G>T
ENST00000475966.1:n.282G>T
ENST00000484317.5:n.431G>T
ENST00000620277.4:c.793G>T	ENSP00000478387.1:p.Asp265Tyr
NM_001142463.2:c.793G>T	NP_001135935.1:p.Asp265Tyr
NM_001288747.1:c.793G>T	NP_001275676.1:p.Asp265Tyr
NM_001363.4:c.793G>T	NP_001354.1:p.Asp265Tyr
NR_110021.1:n.1494G>T
NR_110022.1:n.1613G>T
NR_110023.1:n.1387G>T
NM_001363.5:c.793G>T MANE Select	NP_001354.1:p.Asp265Tyr
NM_001142463.3:c.793G>T	NP_001135935.1:p.Asp265Tyr
NR_110021.2:n.1372G>T
NR_110022.2:n.1491G>T
NR_110023.2:n.1265G>T
NM_001288747.2:c.793G>T	NP_001275676.1:p.Asp265Tyr