Canonical Allele Identifier: CA343226
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38942
ClinVar RCV Id: RCV000032193 RCV002371802
dbSNP Id: rs121912289
MyVariant Identifiers: chrX:g.154002947C>T (hg19) chrX:g.154774672C>T (hg38)
PubMed: PMID:20301779
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154774672C>T , CM000685.2:g.154774672C>T GRCh38
NC_000023.10:g.154002947C>T , CM000685.1:g.154002947C>T GRCh37
NC_000023.9:g.153656141C>T NCBI36
NG_009780.1:g.16917C>T , LRG_55:g.16917C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000413910.6:c.1106C>T ENSP00000400542.2:p.Pro369Leu
ENST00000426673.6:c.*609C>T ENSP00000407253.3:n.*609C>T
ENST00000484317.6:n.1011C>T
ENST00000696575.1:c.1226C>T ENSP00000512730.1:p.Pro409Leu
ENST00000696577.1:c.1226C>T ENSP00000512731.1:p.Pro409Leu
ENST00000696578.1:c.*178C>T ENSP00000512732.1:n.*178C>T
ENST00000696579.1:n.1328C>T
ENST00000696580.1:c.1139C>T ENSP00000512733.1:p.Pro380Leu
ENST00000696581.1:c.*1200C>T ENSP00000512734.1:n.*1200C>T
ENST00000696582.1:c.*432C>T ENSP00000512735.1:n.*432C>T
ENST00000696583.1:c.1187C>T ENSP00000512736.1:p.Pro396Leu
ENST00000696584.1:n.1750C>T
ENST00000696585.1:n.1869C>T
ENST00000696586.1:n.1643C>T
ENST00000696587.1:c.1106C>T ENSP00000512737.1:p.Pro369Leu
ENST00000696588.1:c.617C>T ENSP00000513251.1:p.Pro206Leu
ENST00000696589.1:n.1001C>T
ENST00000696590.1:n.850C>T
ENST00000696591.1:n.575C>T
ENST00000696592.1:n.2105C>T
ENST00000696627.1:c.*52C>T ENSP00000512764.1:n.*52C>T
ENST00000696628.1:c.1226C>T ENSP00000512765.1:p.Pro409Leu
ENST00000369550.10:c.1226C>T MANE Select ENSP00000358563.5:p.Pro409Leu
ENST00000369550.9:c.1226C>T ENSP00000358563.5:p.Pro409Leu
ENST00000412124.5:c.484C>T
ENST00000426673.5:c.586C>T
ENST00000475966.1:n.715C>T
ENST00000481062.1:n.177C>T
ENST00000620277.4:c.1226C>T ENSP00000478387.1:p.Pro409Leu
NM_001142463.2:c.1226C>T NP_001135935.1:p.Pro409Leu
NM_001288747.1:c.1226C>T NP_001275676.1:p.Pro409Leu
NM_001363.4:c.1226C>T NP_001354.1:p.Pro409Leu
NR_110021.1:n.1927C>T
NR_110022.1:n.2046C>T
NR_110023.1:n.1820C>T
NM_001363.5:c.1226C>T MANE Select NP_001354.1:p.Pro409Leu
NM_001142463.3:c.1226C>T NP_001135935.1:p.Pro409Leu
NR_110021.2:n.1805C>T
NR_110022.2:n.1924C>T
NR_110023.2:n.1698C>T
NM_001288747.2:c.1226C>T NP_001275676.1:p.Pro409Leu
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