Canonical Allele Identifier: CA414891491

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997536T>G (hg19) ; chrX:g.154769261T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769261T>G , CM000685.2:g.154769261T>G	GRCh38
NC_000023.10:g.153997536T>G , CM000685.1:g.153997536T>G	GRCh37
NC_000023.9:g.153650730T>G	NCBI36
NG_009780.1:g.11506T>G , LRG_55:g.11506T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.746T>G	ENSP00000400542.2:p.Leu249Trp
ENST00000426673.6:c.*249T>G	ENSP00000407253.3:n.*249T>G
ENST00000484317.6:n.651T>G
ENST00000696575.1:c.866T>G	ENSP00000512730.1:p.Leu289Trp
ENST00000696576.1:n.968T>G
ENST00000696577.1:c.866T>G	ENSP00000512731.1:p.Leu289Trp
ENST00000696578.1:c.866T>G	ENSP00000512732.1:p.Leu289Trp
ENST00000696579.1:n.968T>G
ENST00000696580.1:c.779T>G	ENSP00000512733.1:p.Leu260Trp
ENST00000696581.1:c.*840T>G	ENSP00000512734.1:n.*840T>G
ENST00000696582.1:c.*72T>G	ENSP00000512735.1:n.*72T>G
ENST00000696583.1:c.827T>G	ENSP00000512736.1:p.Leu276Trp
ENST00000696584.1:n.1390T>G
ENST00000696585.1:n.1509T>G
ENST00000696586.1:n.1283T>G
ENST00000696587.1:c.746T>G	ENSP00000512737.1:p.Leu249Trp
ENST00000696588.1:c.257T>G	ENSP00000513251.1:p.Leu86Trp
ENST00000696589.1:n.641T>G
ENST00000696590.1:n.490T>G
ENST00000696591.1:n.215T>G
ENST00000696627.1:c.866T>G	ENSP00000512764.1:p.Leu289Trp
ENST00000696628.1:c.866T>G	ENSP00000512765.1:p.Leu289Trp
ENST00000369550.10:c.866T>G MANE Select	ENSP00000358563.5:p.Leu289Trp
ENST00000369550.9:c.866T>G	ENSP00000358563.5:p.Leu289Trp
ENST00000412124.5:c.174-1498T>G
ENST00000413910.5:c.746T>G	ENSP00000400542.1:p.Leu249Trp
ENST00000426673.5:c.226T>G
ENST00000475966.1:n.355T>G
ENST00000484317.5:n.504T>G
ENST00000620277.4:c.866T>G	ENSP00000478387.1:p.Leu289Trp
NM_001142463.2:c.866T>G	NP_001135935.1:p.Leu289Trp
NM_001288747.1:c.866T>G	NP_001275676.1:p.Leu289Trp
NM_001363.4:c.866T>G	NP_001354.1:p.Leu289Trp
NR_110021.1:n.1567T>G
NR_110022.1:n.1686T>G
NR_110023.1:n.1460T>G
NM_001363.5:c.866T>G MANE Select	NP_001354.1:p.Leu289Trp
NM_001142463.3:c.866T>G	NP_001135935.1:p.Leu289Trp
NR_110021.2:n.1445T>G
NR_110022.2:n.1564T>G
NR_110023.2:n.1338T>G
NM_001288747.2:c.866T>G	NP_001275676.1:p.Leu289Trp