Canonical Allele Identifier: CA414891478

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997533C>G (hg19) ; chrX:g.154769258C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769258C>G , CM000685.2:g.154769258C>G	GRCh38
NC_000023.10:g.153997533C>G , CM000685.1:g.153997533C>G	GRCh37
NC_000023.9:g.153650727C>G	NCBI36
NG_009780.1:g.11503C>G , LRG_55:g.11503C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.743C>G	ENSP00000400542.2:p.Pro248Arg
ENST00000426673.6:c.*246C>G	ENSP00000407253.3:n.*246C>G
ENST00000484317.6:n.648C>G
ENST00000696575.1:c.863C>G	ENSP00000512730.1:p.Pro288Arg
ENST00000696576.1:n.965C>G
ENST00000696577.1:c.863C>G	ENSP00000512731.1:p.Pro288Arg
ENST00000696578.1:c.863C>G	ENSP00000512732.1:p.Pro288Arg
ENST00000696579.1:n.965C>G
ENST00000696580.1:c.776C>G	ENSP00000512733.1:p.Pro259Arg
ENST00000696581.1:c.*837C>G	ENSP00000512734.1:n.*837C>G
ENST00000696582.1:c.*69C>G	ENSP00000512735.1:n.*69C>G
ENST00000696583.1:c.824C>G	ENSP00000512736.1:p.Pro275Arg
ENST00000696584.1:n.1387C>G
ENST00000696585.1:n.1506C>G
ENST00000696586.1:n.1280C>G
ENST00000696587.1:c.743C>G	ENSP00000512737.1:p.Pro248Arg
ENST00000696588.1:c.254C>G	ENSP00000513251.1:p.Pro85Arg
ENST00000696589.1:n.638C>G
ENST00000696590.1:n.487C>G
ENST00000696591.1:n.212C>G
ENST00000696627.1:c.863C>G	ENSP00000512764.1:p.Pro288Arg
ENST00000696628.1:c.863C>G	ENSP00000512765.1:p.Pro288Arg
ENST00000369550.10:c.863C>G MANE Select	ENSP00000358563.5:p.Pro288Arg
ENST00000369550.9:c.863C>G	ENSP00000358563.5:p.Pro288Arg
ENST00000412124.5:c.174-1501C>G
ENST00000413910.5:c.743C>G	ENSP00000400542.1:p.Pro248Arg
ENST00000426673.5:c.223C>G
ENST00000475966.1:n.352C>G
ENST00000484317.5:n.501C>G
ENST00000620277.4:c.863C>G	ENSP00000478387.1:p.Pro288Arg
NM_001142463.2:c.863C>G	NP_001135935.1:p.Pro288Arg
NM_001288747.1:c.863C>G	NP_001275676.1:p.Pro288Arg
NM_001363.4:c.863C>G	NP_001354.1:p.Pro288Arg
NR_110021.1:n.1564C>G
NR_110022.1:n.1683C>G
NR_110023.1:n.1457C>G
NM_001363.5:c.863C>G MANE Select	NP_001354.1:p.Pro288Arg
NM_001142463.3:c.863C>G	NP_001135935.1:p.Pro288Arg
NR_110021.2:n.1442C>G
NR_110022.2:n.1561C>G
NR_110023.2:n.1335C>G
NM_001288747.2:c.863C>G	NP_001275676.1:p.Pro288Arg