Canonical Allele Identifier: CA414891369

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997514C>A (hg19) ; chrX:g.154769239C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769239C>A , CM000685.2:g.154769239C>A	GRCh38
NC_000023.10:g.153997514C>A , CM000685.1:g.153997514C>A	GRCh37
NC_000023.9:g.153650708C>A	NCBI36
NG_009780.1:g.11484C>A , LRG_55:g.11484C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.724C>A	ENSP00000400542.2:p.Leu242Met
ENST00000426673.6:c.*227C>A	ENSP00000407253.3:n.*227C>A
ENST00000484317.6:n.629C>A
ENST00000696575.1:c.844C>A	ENSP00000512730.1:p.Leu282Met
ENST00000696576.1:n.946C>A
ENST00000696577.1:c.844C>A	ENSP00000512731.1:p.Leu282Met
ENST00000696578.1:c.844C>A	ENSP00000512732.1:p.Leu282Met
ENST00000696579.1:n.946C>A
ENST00000696580.1:c.757C>A	ENSP00000512733.1:p.Leu253Met
ENST00000696581.1:c.*818C>A	ENSP00000512734.1:n.*818C>A
ENST00000696582.1:c.*50C>A	ENSP00000512735.1:n.*50C>A
ENST00000696583.1:c.805C>A	ENSP00000512736.1:p.Leu269Met
ENST00000696584.1:n.1368C>A
ENST00000696585.1:n.1487C>A
ENST00000696586.1:n.1261C>A
ENST00000696587.1:c.724C>A	ENSP00000512737.1:p.Leu242Met
ENST00000696588.1:c.235C>A	ENSP00000513251.1:p.Leu79Met
ENST00000696589.1:n.619C>A
ENST00000696590.1:n.468C>A
ENST00000696591.1:n.193C>A
ENST00000696627.1:c.844C>A	ENSP00000512764.1:p.Leu282Met
ENST00000696628.1:c.844C>A	ENSP00000512765.1:p.Leu282Met
ENST00000369550.10:c.844C>A MANE Select	ENSP00000358563.5:p.Leu282Met
ENST00000369550.9:c.844C>A	ENSP00000358563.5:p.Leu282Met
ENST00000412124.5:c.174-1520C>A
ENST00000413910.5:c.724C>A	ENSP00000400542.1:p.Leu242Met
ENST00000426673.5:c.204C>A
ENST00000475966.1:n.333C>A
ENST00000484317.5:n.482C>A
ENST00000620277.4:c.844C>A	ENSP00000478387.1:p.Leu282Met
NM_001142463.2:c.844C>A	NP_001135935.1:p.Leu282Met
NM_001288747.1:c.844C>A	NP_001275676.1:p.Leu282Met
NM_001363.4:c.844C>A	NP_001354.1:p.Leu282Met
NR_110021.1:n.1545C>A
NR_110022.1:n.1664C>A
NR_110023.1:n.1438C>A
NM_001363.5:c.844C>A MANE Select	NP_001354.1:p.Leu282Met
NM_001142463.3:c.844C>A	NP_001135935.1:p.Leu282Met
NR_110021.2:n.1423C>A
NR_110022.2:n.1542C>A
NR_110023.2:n.1316C>A
NM_001288747.2:c.844C>A	NP_001275676.1:p.Leu282Met