Canonical Allele Identifier: CA414891546

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997545T>G (hg19) ; chrX:g.154769270T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769270T>G , CM000685.2:g.154769270T>G	GRCh38
NC_000023.10:g.153997545T>G , CM000685.1:g.153997545T>G	GRCh37
NC_000023.9:g.153650739T>G	NCBI36
NG_009780.1:g.11515T>G , LRG_55:g.11515T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.755T>G	ENSP00000400542.2:p.Leu252Arg
ENST00000426673.6:c.*258T>G	ENSP00000407253.3:n.*258T>G
ENST00000484317.6:n.660T>G
ENST00000696575.1:c.875T>G	ENSP00000512730.1:p.Leu292Arg
ENST00000696576.1:n.977T>G
ENST00000696577.1:c.875T>G	ENSP00000512731.1:p.Leu292Arg
ENST00000696578.1:c.875T>G	ENSP00000512732.1:p.Leu292Arg
ENST00000696579.1:n.977T>G
ENST00000696580.1:c.788T>G	ENSP00000512733.1:p.Leu263Arg
ENST00000696581.1:c.*849T>G	ENSP00000512734.1:n.*849T>G
ENST00000696582.1:c.*81T>G	ENSP00000512735.1:n.*81T>G
ENST00000696583.1:c.836T>G	ENSP00000512736.1:p.Leu279Arg
ENST00000696584.1:n.1399T>G
ENST00000696585.1:n.1518T>G
ENST00000696586.1:n.1292T>G
ENST00000696587.1:c.755T>G	ENSP00000512737.1:p.Leu252Arg
ENST00000696588.1:c.266T>G	ENSP00000513251.1:p.Leu89Arg
ENST00000696589.1:n.650T>G
ENST00000696590.1:n.499T>G
ENST00000696591.1:n.224T>G
ENST00000696627.1:c.875T>G	ENSP00000512764.1:p.Leu292Arg
ENST00000696628.1:c.875T>G	ENSP00000512765.1:p.Leu292Arg
ENST00000369550.10:c.875T>G MANE Select	ENSP00000358563.5:p.Leu292Arg
ENST00000369550.9:c.875T>G	ENSP00000358563.5:p.Leu292Arg
ENST00000412124.5:c.174-1489T>G
ENST00000413910.5:c.755T>G	ENSP00000400542.1:p.Leu252Arg
ENST00000426673.5:c.235T>G
ENST00000475966.1:n.364T>G
ENST00000484317.5:n.513T>G
ENST00000620277.4:c.875T>G	ENSP00000478387.1:p.Leu292Arg
NM_001142463.2:c.875T>G	NP_001135935.1:p.Leu292Arg
NM_001288747.1:c.875T>G	NP_001275676.1:p.Leu292Arg
NM_001363.4:c.875T>G	NP_001354.1:p.Leu292Arg
NR_110021.1:n.1576T>G
NR_110022.1:n.1695T>G
NR_110023.1:n.1469T>G
NM_001363.5:c.875T>G MANE Select	NP_001354.1:p.Leu292Arg
NM_001142463.3:c.875T>G	NP_001135935.1:p.Leu292Arg
NR_110021.2:n.1454T>G
NR_110022.2:n.1573T>G
NR_110023.2:n.1347T>G
NM_001288747.2:c.875T>G	NP_001275676.1:p.Leu292Arg