Canonical Allele Identifier: CA414894929

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001415T>G (hg19) ; chrX:g.154773140T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773140T>G , CM000685.2:g.154773140T>G	GRCh38
NC_000023.10:g.154001415T>G , CM000685.1:g.154001415T>G	GRCh37
NC_000023.9:g.153654609T>G	NCBI36
NG_009780.1:g.15385T>G , LRG_55:g.15385T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.926T>G	ENSP00000400542.2:p.Leu309Ter
ENST00000426673.6:c.*429T>G	ENSP00000407253.3:n.*429T>G
ENST00000484317.6:n.831T>G
ENST00000696575.1:c.1046T>G	ENSP00000512730.1:p.Leu349Ter
ENST00000696577.1:c.1046T>G	ENSP00000512731.1:p.Leu349Ter
ENST00000696578.1:c.925T>G	ENSP00000512732.1:p.Ter309Glu
ENST00000696579.1:n.1148T>G
ENST00000696580.1:c.959T>G	ENSP00000512733.1:p.Leu320Ter
ENST00000696581.1:c.*1020T>G	ENSP00000512734.1:n.*1020T>G
ENST00000696582.1:c.*252T>G	ENSP00000512735.1:n.*252T>G
ENST00000696583.1:c.1007T>G	ENSP00000512736.1:p.Leu336Ter
ENST00000696584.1:n.1570T>G
ENST00000696585.1:n.1689T>G
ENST00000696586.1:n.1463T>G
ENST00000696587.1:c.926T>G	ENSP00000512737.1:p.Leu309Ter
ENST00000696588.1:c.437T>G	ENSP00000513251.1:p.Leu146Ter
ENST00000696589.1:n.821T>G
ENST00000696590.1:n.670T>G
ENST00000696591.1:n.395T>G
ENST00000696592.1:n.1925T>G
ENST00000696627.1:c.1046T>G	ENSP00000512764.1:p.Leu349Ter
ENST00000696628.1:c.1046T>G	ENSP00000512765.1:p.Leu349Ter
ENST00000369550.10:c.1046T>G MANE Select	ENSP00000358563.5:p.Leu349Ter
ENST00000369550.9:c.1046T>G	ENSP00000358563.5:p.Leu349Ter
ENST00000412124.5:c.304T>G
ENST00000426673.5:c.406T>G
ENST00000475966.1:n.535T>G
ENST00000620277.4:c.1046T>G	ENSP00000478387.1:p.Leu349Ter
NM_001142463.2:c.1046T>G	NP_001135935.1:p.Leu349Ter
NM_001288747.1:c.1046T>G	NP_001275676.1:p.Leu349Ter
NM_001363.4:c.1046T>G	NP_001354.1:p.Leu349Ter
NR_110021.1:n.1747T>G
NR_110022.1:n.1866T>G
NR_110023.1:n.1640T>G
NM_001363.5:c.1046T>G MANE Select	NP_001354.1:p.Leu349Ter
NM_001142463.3:c.1046T>G	NP_001135935.1:p.Leu349Ter
NR_110021.2:n.1625T>G
NR_110022.2:n.1744T>G
NR_110023.2:n.1518T>G
NM_001288747.2:c.1046T>G	NP_001275676.1:p.Leu349Ter