Canonical Allele Identifier: CA414896024

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001498C>G (hg19) ; chrX:g.154773223C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773223C>G , CM000685.2:g.154773223C>G	GRCh38
NC_000023.10:g.154001498C>G , CM000685.1:g.154001498C>G	GRCh37
NC_000023.9:g.153654692C>G	NCBI36
NG_009780.1:g.15468C>G , LRG_55:g.15468C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1009C>G	ENSP00000400542.2:p.Pro337Ala
ENST00000426673.6:c.*512C>G	ENSP00000407253.3:n.*512C>G
ENST00000484317.6:n.914C>G
ENST00000696575.1:c.1129C>G	ENSP00000512730.1:p.Pro377Ala
ENST00000696577.1:c.1129C>G	ENSP00000512731.1:p.Pro377Ala
ENST00000696578.1:c.*81C>G	ENSP00000512732.1:n.*81C>G
ENST00000696579.1:n.1231C>G
ENST00000696580.1:c.1042C>G	ENSP00000512733.1:p.Pro348Ala
ENST00000696581.1:c.*1103C>G	ENSP00000512734.1:n.*1103C>G
ENST00000696582.1:c.*335C>G	ENSP00000512735.1:n.*335C>G
ENST00000696583.1:c.1090C>G	ENSP00000512736.1:p.Pro364Ala
ENST00000696584.1:n.1653C>G
ENST00000696585.1:n.1772C>G
ENST00000696586.1:n.1546C>G
ENST00000696587.1:c.1009C>G	ENSP00000512737.1:p.Pro337Ala
ENST00000696588.1:c.520C>G	ENSP00000513251.1:p.Pro174Ala
ENST00000696589.1:n.904C>G
ENST00000696590.1:n.753C>G
ENST00000696591.1:n.478C>G
ENST00000696592.1:n.2008C>G
ENST00000696627.1:c.1129C>G	ENSP00000512764.1:p.Pro377Ala
ENST00000696628.1:c.1129C>G	ENSP00000512765.1:p.Pro377Ala
ENST00000369550.10:c.1129C>G MANE Select	ENSP00000358563.5:p.Pro377Ala
ENST00000369550.9:c.1129C>G	ENSP00000358563.5:p.Pro377Ala
ENST00000412124.5:c.387C>G
ENST00000426673.5:c.489C>G
ENST00000475966.1:n.618C>G
ENST00000481062.1:n.80C>G
ENST00000620277.4:c.1129C>G	ENSP00000478387.1:p.Pro377Ala
NM_001142463.2:c.1129C>G	NP_001135935.1:p.Pro377Ala
NM_001288747.1:c.1129C>G	NP_001275676.1:p.Pro377Ala
NM_001363.4:c.1129C>G	NP_001354.1:p.Pro377Ala
NR_110021.1:n.1830C>G
NR_110022.1:n.1949C>G
NR_110023.1:n.1723C>G
NM_001363.5:c.1129C>G MANE Select	NP_001354.1:p.Pro377Ala
NM_001142463.3:c.1129C>G	NP_001135935.1:p.Pro377Ala
NR_110021.2:n.1708C>G
NR_110022.2:n.1827C>G
NR_110023.2:n.1601C>G
NM_001288747.2:c.1129C>G	NP_001275676.1:p.Pro377Ala