Canonical Allele Identifier: CA414899559

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004499C>G (hg19) ; chrX:g.154776224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776224C>G , CM000685.2:g.154776224C>G	GRCh38
NC_000023.10:g.154004499C>G , CM000685.1:g.154004499C>G	GRCh37
NC_000023.9:g.153657693C>G	NCBI36
NG_009780.1:g.18469C>G , LRG_55:g.18469C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*172C>G	ENSP00000400542.2:n.*172C>G
ENST00000426673.6:c.*818C>G	ENSP00000407253.3:n.*818C>G
ENST00000484317.6:n.1650C>G
ENST00000492372.2:n.314C>G
ENST00000696575.1:c.1361C>G	ENSP00000512730.1:p.Pro454Arg
ENST00000696577.1:c.1376C>G	ENSP00000512731.1:p.Pro459Arg
ENST00000696578.1:c.*328C>G	ENSP00000512732.1:n.*328C>G
ENST00000696579.1:n.2391C>G
ENST00000696580.1:c.1289C>G	ENSP00000512733.1:p.Pro430Arg
ENST00000696581.1:c.*1350C>G	ENSP00000512734.1:n.*1350C>G
ENST00000696582.1:c.*582C>G	ENSP00000512735.1:n.*582C>G
ENST00000696583.1:c.1337C>G	ENSP00000512736.1:p.Pro446Arg
ENST00000696584.1:n.1900C>G
ENST00000696585.1:n.2019C>G
ENST00000696586.1:n.1793C>G
ENST00000696587.1:c.1256C>G	ENSP00000512737.1:p.Pro419Arg
ENST00000696588.1:c.767C>G	ENSP00000513251.1:p.Pro256Arg
ENST00000696589.1:n.1151C>G
ENST00000696590.1:n.2402C>G
ENST00000696591.1:n.725C>G
ENST00000696592.1:n.3657C>G
ENST00000696627.1:c.*202C>G	ENSP00000512764.1:n.*202C>G
ENST00000696628.1:c.1376C>G	ENSP00000512765.1:p.Pro459Arg
ENST00000369550.10:c.1376C>G MANE Select	ENSP00000358563.5:p.Pro459Arg
ENST00000369550.9:c.1376C>G	ENSP00000358563.5:p.Pro459Arg
ENST00000412124.5:c.634C>G
ENST00000426673.5:c.795C>G
ENST00000475966.1:n.865C>G
ENST00000492372.1:n.193C>G
ENST00000620277.4:c.*602C>G	ENSP00000478387.1:n.*602C>G
NM_001142463.2:c.1361C>G	NP_001135935.1:p.Pro454Arg
NM_001288747.1:c.*602C>G	NP_001275676.1:n.*602C>G
NM_001363.4:c.1376C>G	NP_001354.1:p.Pro459Arg
NR_110021.1:n.2077C>G
NR_110022.1:n.2196C>G
NR_110023.1:n.1970C>G
NM_001363.5:c.1376C>G MANE Select	NP_001354.1:p.Pro459Arg
NM_001142463.3:c.1361C>G	NP_001135935.1:p.Pro454Arg
NR_110021.2:n.1955C>G
NR_110022.2:n.2074C>G
NR_110023.2:n.1848C>G
NM_001288747.2:c.*602C>G	NP_001275676.1:n.*602C>G