Canonical Allele Identifier: CA414895292

Gene: DKC1

Linked Data

• dbSNP Id: rs1557265132
• gnomAD v2: X-154001453-A-G
• MyVariant Identifiers: chrX:g.154001453A>G (hg19) ; chrX:g.154773178A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773178A>G , CM000685.2:g.154773178A>G	GRCh38
NC_000023.10:g.154001453A>G , CM000685.1:g.154001453A>G	GRCh37
NC_000023.9:g.153654647A>G	NCBI36
NG_009780.1:g.15423A>G , LRG_55:g.15423A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.964A>G	ENSP00000400542.2:p.Ile322Val
ENST00000426673.6:c.*467A>G	ENSP00000407253.3:n.*467A>G
ENST00000484317.6:n.869A>G
ENST00000696575.1:c.1084A>G	ENSP00000512730.1:p.Ile362Val
ENST00000696577.1:c.1084A>G	ENSP00000512731.1:p.Ile362Val
ENST00000696578.1:c.*36A>G	ENSP00000512732.1:n.*36A>G
ENST00000696579.1:n.1186A>G
ENST00000696580.1:c.997A>G	ENSP00000512733.1:p.Ile333Val
ENST00000696581.1:c.*1058A>G	ENSP00000512734.1:n.*1058A>G
ENST00000696582.1:c.*290A>G	ENSP00000512735.1:n.*290A>G
ENST00000696583.1:c.1045A>G	ENSP00000512736.1:p.Ile349Val
ENST00000696584.1:n.1608A>G
ENST00000696585.1:n.1727A>G
ENST00000696586.1:n.1501A>G
ENST00000696587.1:c.964A>G	ENSP00000512737.1:p.Ile322Val
ENST00000696588.1:c.475A>G	ENSP00000513251.1:p.Ile159Val
ENST00000696589.1:n.859A>G
ENST00000696590.1:n.708A>G
ENST00000696591.1:n.433A>G
ENST00000696592.1:n.1963A>G
ENST00000696627.1:c.1084A>G	ENSP00000512764.1:p.Ile362Val
ENST00000696628.1:c.1084A>G	ENSP00000512765.1:p.Ile362Val
ENST00000369550.10:c.1084A>G MANE Select	ENSP00000358563.5:p.Ile362Val
ENST00000369550.9:c.1084A>G	ENSP00000358563.5:p.Ile362Val
ENST00000412124.5:c.342A>G
ENST00000426673.5:c.444A>G
ENST00000475966.1:n.573A>G
ENST00000481062.1:n.35A>G
ENST00000620277.4:c.1084A>G	ENSP00000478387.1:p.Ile362Val
NM_001142463.2:c.1084A>G	NP_001135935.1:p.Ile362Val
NM_001288747.1:c.1084A>G	NP_001275676.1:p.Ile362Val
NM_001363.4:c.1084A>G	NP_001354.1:p.Ile362Val
NR_110021.1:n.1785A>G
NR_110022.1:n.1904A>G
NR_110023.1:n.1678A>G
NM_001363.5:c.1084A>G MANE Select	NP_001354.1:p.Ile362Val
NM_001142463.3:c.1084A>G	NP_001135935.1:p.Ile362Val
NR_110021.2:n.1663A>G
NR_110022.2:n.1782A>G
NR_110023.2:n.1556A>G
NM_001288747.2:c.1084A>G	NP_001275676.1:p.Ile362Val