Canonical Allele Identifier: CA414895305

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001454T>G (hg19) ; chrX:g.154773179T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773179T>G , CM000685.2:g.154773179T>G	GRCh38
NC_000023.10:g.154001454T>G , CM000685.1:g.154001454T>G	GRCh37
NC_000023.9:g.153654648T>G	NCBI36
NG_009780.1:g.15424T>G , LRG_55:g.15424T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.965T>G	ENSP00000400542.2:p.Ile322Arg
ENST00000426673.6:c.*468T>G	ENSP00000407253.3:n.*468T>G
ENST00000484317.6:n.870T>G
ENST00000696575.1:c.1085T>G	ENSP00000512730.1:p.Ile362Arg
ENST00000696577.1:c.1085T>G	ENSP00000512731.1:p.Ile362Arg
ENST00000696578.1:c.*37T>G	ENSP00000512732.1:n.*37T>G
ENST00000696579.1:n.1187T>G
ENST00000696580.1:c.998T>G	ENSP00000512733.1:p.Ile333Arg
ENST00000696581.1:c.*1059T>G	ENSP00000512734.1:n.*1059T>G
ENST00000696582.1:c.*291T>G	ENSP00000512735.1:n.*291T>G
ENST00000696583.1:c.1046T>G	ENSP00000512736.1:p.Ile349Arg
ENST00000696584.1:n.1609T>G
ENST00000696585.1:n.1728T>G
ENST00000696586.1:n.1502T>G
ENST00000696587.1:c.965T>G	ENSP00000512737.1:p.Ile322Arg
ENST00000696588.1:c.476T>G	ENSP00000513251.1:p.Ile159Arg
ENST00000696589.1:n.860T>G
ENST00000696590.1:n.709T>G
ENST00000696591.1:n.434T>G
ENST00000696592.1:n.1964T>G
ENST00000696627.1:c.1085T>G	ENSP00000512764.1:p.Ile362Arg
ENST00000696628.1:c.1085T>G	ENSP00000512765.1:p.Ile362Arg
ENST00000369550.10:c.1085T>G MANE Select	ENSP00000358563.5:p.Ile362Arg
ENST00000369550.9:c.1085T>G	ENSP00000358563.5:p.Ile362Arg
ENST00000412124.5:c.343T>G
ENST00000426673.5:c.445T>G
ENST00000475966.1:n.574T>G
ENST00000481062.1:n.36T>G
ENST00000620277.4:c.1085T>G	ENSP00000478387.1:p.Ile362Arg
NM_001142463.2:c.1085T>G	NP_001135935.1:p.Ile362Arg
NM_001288747.1:c.1085T>G	NP_001275676.1:p.Ile362Arg
NM_001363.4:c.1085T>G	NP_001354.1:p.Ile362Arg
NR_110021.1:n.1786T>G
NR_110022.1:n.1905T>G
NR_110023.1:n.1679T>G
NM_001363.5:c.1085T>G MANE Select	NP_001354.1:p.Ile362Arg
NM_001142463.3:c.1085T>G	NP_001135935.1:p.Ile362Arg
NR_110021.2:n.1664T>G
NR_110022.2:n.1783T>G
NR_110023.2:n.1557T>G
NM_001288747.2:c.1085T>G	NP_001275676.1:p.Ile362Arg