Canonical Allele Identifier: CA156187

Gene: DKC1

Linked Data

• ClinVar Variation Id: 11591
• ClinVar RCV Id: RCV000012349 ; RCV000254868 ; RCV000816060
• dbSNP Id: rs121912304
• MyVariant Identifiers: chrX:g.153993780C>T (hg19) ; chrX:g.154765505C>T (hg38)
• PubMed: PMID:10583221 ; PMID:11491307 ; PMID:19734544 ; PMID:20301779 ; PMID:24914498

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765505C>T , CM000685.2:g.154765505C>T	GRCh38
NC_000023.10:g.153993780C>T , CM000685.1:g.153993780C>T	GRCh37
NC_000023.9:g.153646974C>T	NCBI36
NG_009780.1:g.7750C>T , LRG_55:g.7750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.146C>T	ENSP00000400542.2:p.Thr49Met
ENST00000426673.6:c.146C>T	ENSP00000407253.3:p.Thr49Met
ENST00000696575.1:c.146C>T	ENSP00000512730.1:p.Thr49Met
ENST00000696576.1:n.248C>T
ENST00000696577.1:c.146C>T	ENSP00000512731.1:p.Thr49Met
ENST00000696578.1:c.146C>T	ENSP00000512732.1:p.Thr49Met
ENST00000696579.1:n.248C>T
ENST00000696580.1:c.85-402C>T	ENSP00000512733.1:n.85-402C>T
ENST00000696581.1:c.*120C>T	ENSP00000512734.1:n.*120C>T
ENST00000696582.1:c.146C>T	ENSP00000512735.1:p.Thr49Met
ENST00000696583.1:c.146C>T	ENSP00000512736.1:p.Thr49Met
ENST00000696584.1:n.670C>T
ENST00000696585.1:n.193C>T
ENST00000696586.1:n.193C>T
ENST00000696587.1:c.146C>T	ENSP00000512737.1:p.Thr49Met
ENST00000696588.1:c.-464C>T	ENSP00000513251.1:n.-464C>T
ENST00000696627.1:c.146C>T	ENSP00000512764.1:p.Thr49Met
ENST00000696628.1:c.146C>T	ENSP00000512765.1:p.Thr49Met
ENST00000369550.10:c.146C>T MANE Select	ENSP00000358563.5:p.Thr49Met
ENST00000369550.9:c.146C>T	ENSP00000358563.5:p.Thr49Met
ENST00000413910.5:c.146C>T	ENSP00000400542.1:p.Thr49Met
ENST00000437719.5:c.102C>T
ENST00000452771.5:c.104C>T	ENSP00000407325.1:p.Thr35Met
ENST00000473552.1:n.199C>T
ENST00000620277.4:c.146C>T	ENSP00000478387.1:p.Thr49Met
NM_001142463.2:c.146C>T	NP_001135935.1:p.Thr49Met
NM_001288747.1:c.146C>T	NP_001275676.1:p.Thr49Met
NM_001363.4:c.146C>T	NP_001354.1:p.Thr49Met
NR_110021.1:n.847C>T
NR_110022.1:n.370C>T
NR_110023.1:n.370C>T
NM_001363.5:c.146C>T MANE Select	NP_001354.1:p.Thr49Met
NM_001142463.3:c.146C>T	NP_001135935.1:p.Thr49Met
NR_110021.2:n.725C>T
NR_110022.2:n.248C>T
NR_110023.2:n.248C>T
NM_001288747.2:c.146C>T	NP_001275676.1:p.Thr49Met