Canonical Allele Identifier: CA10567154

Gene: DKC1

Linked Data

• dbSNP Id: rs782162028
• ExAC: X:154001455 A / G
• MyVariant Identifiers: chrX:g.154001455A>G (hg19) ; chrX:g.154773180A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773180A>G , CM000685.2:g.154773180A>G	GRCh38
NC_000023.10:g.154001455A>G , CM000685.1:g.154001455A>G	GRCh37
NC_000023.9:g.153654649A>G	NCBI36
NG_009780.1:g.15425A>G , LRG_55:g.15425A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.966A>G	ENSP00000400542.2:p.Ile322Met
ENST00000426673.6:c.*469A>G	ENSP00000407253.3:n.*469A>G
ENST00000484317.6:n.871A>G
ENST00000696575.1:c.1086A>G	ENSP00000512730.1:p.Ile362Met
ENST00000696577.1:c.1086A>G	ENSP00000512731.1:p.Ile362Met
ENST00000696578.1:c.*38A>G	ENSP00000512732.1:n.*38A>G
ENST00000696579.1:n.1188A>G
ENST00000696580.1:c.999A>G	ENSP00000512733.1:p.Ile333Met
ENST00000696581.1:c.*1060A>G	ENSP00000512734.1:n.*1060A>G
ENST00000696582.1:c.*292A>G	ENSP00000512735.1:n.*292A>G
ENST00000696583.1:c.1047A>G	ENSP00000512736.1:p.Ile349Met
ENST00000696584.1:n.1610A>G
ENST00000696585.1:n.1729A>G
ENST00000696586.1:n.1503A>G
ENST00000696587.1:c.966A>G	ENSP00000512737.1:p.Ile322Met
ENST00000696588.1:c.477A>G	ENSP00000513251.1:p.Ile159Met
ENST00000696589.1:n.861A>G
ENST00000696590.1:n.710A>G
ENST00000696591.1:n.435A>G
ENST00000696592.1:n.1965A>G
ENST00000696627.1:c.1086A>G	ENSP00000512764.1:p.Ile362Met
ENST00000696628.1:c.1086A>G	ENSP00000512765.1:p.Ile362Met
ENST00000369550.10:c.1086A>G MANE Select	ENSP00000358563.5:p.Ile362Met
ENST00000369550.9:c.1086A>G	ENSP00000358563.5:p.Ile362Met
ENST00000412124.5:c.344A>G
ENST00000426673.5:c.446A>G
ENST00000475966.1:n.575A>G
ENST00000481062.1:n.37A>G
ENST00000620277.4:c.1086A>G	ENSP00000478387.1:p.Ile362Met
NM_001142463.2:c.1086A>G	NP_001135935.1:p.Ile362Met
NM_001288747.1:c.1086A>G	NP_001275676.1:p.Ile362Met
NM_001363.4:c.1086A>G	NP_001354.1:p.Ile362Met
NR_110021.1:n.1787A>G
NR_110022.1:n.1906A>G
NR_110023.1:n.1680A>G
NM_001363.5:c.1086A>G MANE Select	NP_001354.1:p.Ile362Met
NM_001142463.3:c.1086A>G	NP_001135935.1:p.Ile362Met
NR_110021.2:n.1665A>G
NR_110022.2:n.1784A>G
NR_110023.2:n.1558A>G
NM_001288747.2:c.1086A>G	NP_001275676.1:p.Ile362Met