Canonical Allele Identifier: CA343208
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38935
ClinVar RCV Id: RCV000032186
dbSNP Id: rs199422251

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773245C>T , CM000685.2:g.154773245C>T GRCh38
NC_000023.10:g.154001520C>T , CM000685.1:g.154001520C>T GRCh37
NC_000023.9:g.153654714C>T NCBI36
NG_009780.1:g.15490C>T , LRG_55:g.15490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413910.6:c.1031C>T ENSP00000400542.2:p.Pro344Leu
ENST00000426673.6:c.*534C>T ENSP00000407253.3:n.*534C>T
ENST00000484317.6:n.936C>T
ENST00000696575.1:c.1151C>T ENSP00000512730.1:p.Pro384Leu
ENST00000696577.1:c.1151C>T ENSP00000512731.1:p.Pro384Leu
ENST00000696578.1:c.*103C>T ENSP00000512732.1:n.*103C>T
ENST00000696579.1:n.1253C>T
ENST00000696580.1:c.1064C>T ENSP00000512733.1:p.Pro355Leu
ENST00000696581.1:c.*1125C>T ENSP00000512734.1:n.*1125C>T
ENST00000696582.1:c.*357C>T ENSP00000512735.1:n.*357C>T
ENST00000696583.1:c.1112C>T ENSP00000512736.1:p.Pro371Leu
ENST00000696584.1:n.1675C>T
ENST00000696585.1:n.1794C>T
ENST00000696586.1:n.1568C>T
ENST00000696587.1:c.1031C>T ENSP00000512737.1:p.Pro344Leu
ENST00000696588.1:c.542C>T ENSP00000513251.1:p.Pro181Leu
ENST00000696589.1:n.926C>T
ENST00000696590.1:n.775C>T
ENST00000696591.1:n.500C>T
ENST00000696592.1:n.2030C>T
ENST00000696627.1:c.1151C>T ENSP00000512764.1:p.Pro384Leu
ENST00000696628.1:c.1151C>T ENSP00000512765.1:p.Pro384Leu
ENST00000369550.10:c.1151C>T MANE Select ENSP00000358563.5:p.Pro384Leu
ENST00000369550.9:c.1151C>T ENSP00000358563.5:p.Pro384Leu
ENST00000412124.5:c.409C>T
ENST00000426673.5:c.511C>T
ENST00000475966.1:n.640C>T
ENST00000481062.1:n.102C>T
ENST00000620277.4:c.1151C>T ENSP00000478387.1:p.Pro384Leu
NM_001142463.2:c.1151C>T NP_001135935.1:p.Pro384Leu
NM_001288747.1:c.1151C>T NP_001275676.1:p.Pro384Leu
NM_001363.4:c.1151C>T NP_001354.1:p.Pro384Leu
NR_110021.1:n.1852C>T
NR_110022.1:n.1971C>T
NR_110023.1:n.1745C>T
NM_001363.5:c.1151C>T MANE Select NP_001354.1:p.Pro384Leu
NM_001142463.3:c.1151C>T NP_001135935.1:p.Pro384Leu
NR_110021.2:n.1730C>T
NR_110022.2:n.1849C>T
NR_110023.2:n.1623C>T
NM_001288747.2:c.1151C>T NP_001275676.1:p.Pro384Leu