Canonical Allele Identifier: CA414900317

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004571T>C (hg19) ; chrX:g.154776296T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776296T>C , CM000685.2:g.154776296T>C	GRCh38
NC_000023.10:g.154004571T>C , CM000685.1:g.154004571T>C	GRCh37
NC_000023.9:g.153657765T>C	NCBI36
NG_009780.1:g.18541T>C , LRG_55:g.18541T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*244T>C	ENSP00000400542.2:n.*244T>C
ENST00000426673.6:c.*890T>C	ENSP00000407253.3:n.*890T>C
ENST00000484317.6:n.1722T>C
ENST00000492372.2:n.386T>C
ENST00000696575.1:c.1433T>C	ENSP00000512730.1:p.Leu478Pro
ENST00000696577.1:c.1448T>C	ENSP00000512731.1:p.Leu483Pro
ENST00000696578.1:c.*400T>C	ENSP00000512732.1:n.*400T>C
ENST00000696579.1:n.2463T>C
ENST00000696580.1:c.1361T>C	ENSP00000512733.1:p.Leu454Pro
ENST00000696581.1:c.*1422T>C	ENSP00000512734.1:n.*1422T>C
ENST00000696582.1:c.*654T>C	ENSP00000512735.1:n.*654T>C
ENST00000696583.1:c.1409T>C	ENSP00000512736.1:p.Leu470Pro
ENST00000696584.1:n.1972T>C
ENST00000696585.1:n.2091T>C
ENST00000696586.1:n.1865T>C
ENST00000696587.1:c.1328T>C	ENSP00000512737.1:p.Leu443Pro
ENST00000696588.1:c.839T>C	ENSP00000513251.1:p.Leu280Pro
ENST00000696589.1:n.1223T>C
ENST00000696590.1:n.2474T>C
ENST00000696591.1:n.797T>C
ENST00000696592.1:n.3729T>C
ENST00000696627.1:c.*274T>C	ENSP00000512764.1:n.*274T>C
ENST00000696628.1:c.1448T>C	ENSP00000512765.1:p.Leu483Pro
ENST00000369550.10:c.1448T>C MANE Select	ENSP00000358563.5:p.Leu483Pro
ENST00000369550.9:c.1448T>C	ENSP00000358563.5:p.Leu483Pro
ENST00000492372.1:n.265T>C
ENST00000620277.4:c.*674T>C	ENSP00000478387.1:n.*674T>C
NM_001142463.2:c.1433T>C	NP_001135935.1:p.Leu478Pro
NM_001288747.1:c.*674T>C	NP_001275676.1:n.*674T>C
NM_001363.4:c.1448T>C	NP_001354.1:p.Leu483Pro
NR_110021.1:n.2149T>C
NR_110022.1:n.2268T>C
NR_110023.1:n.2042T>C
NM_001363.5:c.1448T>C MANE Select	NP_001354.1:p.Leu483Pro
NM_001142463.3:c.1433T>C	NP_001135935.1:p.Leu478Pro
NR_110021.2:n.2027T>C
NR_110022.2:n.2146T>C
NR_110023.2:n.1920T>C
NM_001288747.2:c.*674T>C	NP_001275676.1:n.*674T>C