Canonical Allele Identifier: CA414895898

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001482G>A (hg19) ; chrX:g.154773207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773207G>A , CM000685.2:g.154773207G>A	GRCh38
NC_000023.10:g.154001482G>A , CM000685.1:g.154001482G>A	GRCh37
NC_000023.9:g.153654676G>A	NCBI36
NG_009780.1:g.15452G>A , LRG_55:g.15452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.993G>A	ENSP00000400542.2:p.Met331Ile
ENST00000426673.6:c.*496G>A	ENSP00000407253.3:n.*496G>A
ENST00000484317.6:n.898G>A
ENST00000696575.1:c.1113G>A	ENSP00000512730.1:p.Met371Ile
ENST00000696577.1:c.1113G>A	ENSP00000512731.1:p.Met371Ile
ENST00000696578.1:c.*65G>A	ENSP00000512732.1:n.*65G>A
ENST00000696579.1:n.1215G>A
ENST00000696580.1:c.1026G>A	ENSP00000512733.1:p.Met342Ile
ENST00000696581.1:c.*1087G>A	ENSP00000512734.1:n.*1087G>A
ENST00000696582.1:c.*319G>A	ENSP00000512735.1:n.*319G>A
ENST00000696583.1:c.1074G>A	ENSP00000512736.1:p.Met358Ile
ENST00000696584.1:n.1637G>A
ENST00000696585.1:n.1756G>A
ENST00000696586.1:n.1530G>A
ENST00000696587.1:c.993G>A	ENSP00000512737.1:p.Met331Ile
ENST00000696588.1:c.504G>A	ENSP00000513251.1:p.Met168Ile
ENST00000696589.1:n.888G>A
ENST00000696590.1:n.737G>A
ENST00000696591.1:n.462G>A
ENST00000696592.1:n.1992G>A
ENST00000696627.1:c.1113G>A	ENSP00000512764.1:p.Met371Ile
ENST00000696628.1:c.1113G>A	ENSP00000512765.1:p.Met371Ile
ENST00000369550.10:c.1113G>A MANE Select	ENSP00000358563.5:p.Met371Ile
ENST00000369550.9:c.1113G>A	ENSP00000358563.5:p.Met371Ile
ENST00000412124.5:c.371G>A
ENST00000426673.5:c.473G>A
ENST00000475966.1:n.602G>A
ENST00000481062.1:n.64G>A
ENST00000620277.4:c.1113G>A	ENSP00000478387.1:p.Met371Ile
NM_001142463.2:c.1113G>A	NP_001135935.1:p.Met371Ile
NM_001288747.1:c.1113G>A	NP_001275676.1:p.Met371Ile
NM_001363.4:c.1113G>A	NP_001354.1:p.Met371Ile
NR_110021.1:n.1814G>A
NR_110022.1:n.1933G>A
NR_110023.1:n.1707G>A
NM_001363.5:c.1113G>A MANE Select	NP_001354.1:p.Met371Ile
NM_001142463.3:c.1113G>A	NP_001135935.1:p.Met371Ile
NR_110021.2:n.1692G>A
NR_110022.2:n.1811G>A
NR_110023.2:n.1585G>A
NM_001288747.2:c.1113G>A	NP_001275676.1:p.Met371Ile