Canonical Allele Identifier: CA266026

Gene: DKC1

Linked Data

• ClinVar Variation Id: 68417
• ClinVar RCV Id: RCV000059287
• dbSNP Id: rs121912306
• MyVariant Identifiers: chrX:g.153994224C>T (hg19) ; chrX:g.154765949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765949C>T , CM000685.2:g.154765949C>T	GRCh38
NC_000023.10:g.153994224C>T , CM000685.1:g.153994224C>T	GRCh37
NC_000023.9:g.153647418C>T	NCBI36
NG_009780.1:g.8194C>T , LRG_55:g.8194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.214C>T	ENSP00000400542.2:p.Leu72Phe
ENST00000426673.6:c.214C>T	ENSP00000407253.3:p.Leu72Phe
ENST00000696575.1:c.214C>T	ENSP00000512730.1:p.Leu72Phe
ENST00000696576.1:n.316C>T
ENST00000696577.1:c.214C>T	ENSP00000512731.1:p.Leu72Phe
ENST00000696578.1:c.214C>T	ENSP00000512732.1:p.Leu72Phe
ENST00000696579.1:n.316C>T
ENST00000696580.1:c.127C>T	ENSP00000512733.1:p.Leu43Phe
ENST00000696581.1:c.*188C>T	ENSP00000512734.1:n.*188C>T
ENST00000696582.1:c.214C>T	ENSP00000512735.1:p.Leu72Phe
ENST00000696583.1:c.214C>T	ENSP00000512736.1:p.Leu72Phe
ENST00000696584.1:n.738C>T
ENST00000696585.1:n.261C>T
ENST00000696586.1:n.261C>T
ENST00000696587.1:c.214C>T	ENSP00000512737.1:p.Leu72Phe
ENST00000696588.1:c.-396C>T	ENSP00000513251.1:n.-396C>T
ENST00000696627.1:c.214C>T	ENSP00000512764.1:p.Leu72Phe
ENST00000696628.1:c.214C>T	ENSP00000512765.1:p.Leu72Phe
ENST00000369550.10:c.214C>T MANE Select	ENSP00000358563.5:p.Leu72Phe
ENST00000369550.9:c.214C>T	ENSP00000358563.5:p.Leu72Phe
ENST00000413910.5:c.214C>T	ENSP00000400542.1:p.Leu72Phe
ENST00000437719.5:c.170C>T
ENST00000452771.5:c.172C>T	ENSP00000407325.1:p.Leu58Phe
ENST00000473552.1:n.267C>T
ENST00000620277.4:c.214C>T	ENSP00000478387.1:p.Leu72Phe
NM_001142463.2:c.214C>T	NP_001135935.1:p.Leu72Phe
NM_001288747.1:c.214C>T	NP_001275676.1:p.Leu72Phe
NM_001363.4:c.214C>T	NP_001354.1:p.Leu72Phe
NR_110021.1:n.915C>T
NR_110022.1:n.438C>T
NR_110023.1:n.438C>T
NM_001363.5:c.214C>T MANE Select	NP_001354.1:p.Leu72Phe
NM_001142463.3:c.214C>T	NP_001135935.1:p.Leu72Phe
NR_110021.2:n.793C>T
NR_110022.2:n.316C>T
NR_110023.2:n.316C>T
NM_001288747.2:c.214C>T	NP_001275676.1:p.Leu72Phe