Canonical Allele Identifier: CA414894919

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001414T>A (hg19) ; chrX:g.154773139T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773139T>A , CM000685.2:g.154773139T>A	GRCh38
NC_000023.10:g.154001414T>A , CM000685.1:g.154001414T>A	GRCh37
NC_000023.9:g.153654608T>A	NCBI36
NG_009780.1:g.15384T>A , LRG_55:g.15384T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.925T>A	ENSP00000400542.2:p.Leu309Ile
ENST00000426673.6:c.*428T>A	ENSP00000407253.3:n.*428T>A
ENST00000484317.6:n.830T>A
ENST00000696575.1:c.1045T>A	ENSP00000512730.1:p.Leu349Ile
ENST00000696577.1:c.1045T>A	ENSP00000512731.1:p.Leu349Ile
ENST00000696578.1:c.924T>A	ENSP00000512732.1:p.His308Gln
ENST00000696579.1:n.1147T>A
ENST00000696580.1:c.958T>A	ENSP00000512733.1:p.Leu320Ile
ENST00000696581.1:c.*1019T>A	ENSP00000512734.1:n.*1019T>A
ENST00000696582.1:c.*251T>A	ENSP00000512735.1:n.*251T>A
ENST00000696583.1:c.1006T>A	ENSP00000512736.1:p.Leu336Ile
ENST00000696584.1:n.1569T>A
ENST00000696585.1:n.1688T>A
ENST00000696586.1:n.1462T>A
ENST00000696587.1:c.925T>A	ENSP00000512737.1:p.Leu309Ile
ENST00000696588.1:c.436T>A	ENSP00000513251.1:p.Leu146Ile
ENST00000696589.1:n.820T>A
ENST00000696590.1:n.669T>A
ENST00000696591.1:n.394T>A
ENST00000696592.1:n.1924T>A
ENST00000696627.1:c.1045T>A	ENSP00000512764.1:p.Leu349Ile
ENST00000696628.1:c.1045T>A	ENSP00000512765.1:p.Leu349Ile
ENST00000369550.10:c.1045T>A MANE Select	ENSP00000358563.5:p.Leu349Ile
ENST00000369550.9:c.1045T>A	ENSP00000358563.5:p.Leu349Ile
ENST00000412124.5:c.303T>A
ENST00000426673.5:c.405T>A
ENST00000475966.1:n.534T>A
ENST00000620277.4:c.1045T>A	ENSP00000478387.1:p.Leu349Ile
NM_001142463.2:c.1045T>A	NP_001135935.1:p.Leu349Ile
NM_001288747.1:c.1045T>A	NP_001275676.1:p.Leu349Ile
NM_001363.4:c.1045T>A	NP_001354.1:p.Leu349Ile
NR_110021.1:n.1746T>A
NR_110022.1:n.1865T>A
NR_110023.1:n.1639T>A
NM_001363.5:c.1045T>A MANE Select	NP_001354.1:p.Leu349Ile
NM_001142463.3:c.1045T>A	NP_001135935.1:p.Leu349Ile
NR_110021.2:n.1624T>A
NR_110022.2:n.1743T>A
NR_110023.2:n.1517T>A
NM_001288747.2:c.1045T>A	NP_001275676.1:p.Leu349Ile