Canonical Allele Identifier: CA343198
Gene: DKC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 38931
ClinVar RCV Id: RCV000032182
dbSNP Id: rs121912300

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773143T>C , CM000685.2:g.154773143T>C GRCh38
NC_000023.10:g.154001418T>C , CM000685.1:g.154001418T>C GRCh37
NC_000023.9:g.153654612T>C NCBI36
NG_009780.1:g.15388T>C , LRG_55:g.15388T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000413910.6:c.929T>C ENSP00000400542.2:p.Met310Thr
ENST00000426673.6:c.*432T>C ENSP00000407253.3:n.*432T>C
ENST00000484317.6:n.834T>C
ENST00000696575.1:c.1049T>C ENSP00000512730.1:p.Met350Thr
ENST00000696577.1:c.1049T>C ENSP00000512731.1:p.Met350Thr
ENST00000696578.1:c.*1T>C ENSP00000512732.1:n.*1T>C
ENST00000696579.1:n.1151T>C
ENST00000696580.1:c.962T>C ENSP00000512733.1:p.Met321Thr
ENST00000696581.1:c.*1023T>C ENSP00000512734.1:n.*1023T>C
ENST00000696582.1:c.*255T>C ENSP00000512735.1:n.*255T>C
ENST00000696583.1:c.1010T>C ENSP00000512736.1:p.Met337Thr
ENST00000696584.1:n.1573T>C
ENST00000696585.1:n.1692T>C
ENST00000696586.1:n.1466T>C
ENST00000696587.1:c.929T>C ENSP00000512737.1:p.Met310Thr
ENST00000696588.1:c.440T>C ENSP00000513251.1:p.Met147Thr
ENST00000696589.1:n.824T>C
ENST00000696590.1:n.673T>C
ENST00000696591.1:n.398T>C
ENST00000696592.1:n.1928T>C
ENST00000696627.1:c.1049T>C ENSP00000512764.1:p.Met350Thr
ENST00000696628.1:c.1049T>C ENSP00000512765.1:p.Met350Thr
ENST00000369550.10:c.1049T>C MANE Select ENSP00000358563.5:p.Met350Thr
ENST00000369550.9:c.1049T>C ENSP00000358563.5:p.Met350Thr
ENST00000412124.5:c.307T>C
ENST00000426673.5:c.409T>C
ENST00000475966.1:n.538T>C
ENST00000620277.4:c.1049T>C ENSP00000478387.1:p.Met350Thr
NM_001142463.2:c.1049T>C NP_001135935.1:p.Met350Thr
NM_001288747.1:c.1049T>C NP_001275676.1:p.Met350Thr
NM_001363.4:c.1049T>C NP_001354.1:p.Met350Thr
NR_110021.1:n.1750T>C
NR_110022.1:n.1869T>C
NR_110023.1:n.1643T>C
NM_001363.5:c.1049T>C MANE Select NP_001354.1:p.Met350Thr
NM_001142463.3:c.1049T>C NP_001135935.1:p.Met350Thr
NR_110021.2:n.1628T>C
NR_110022.2:n.1747T>C
NR_110023.2:n.1521T>C
NM_001288747.2:c.1049T>C NP_001275676.1:p.Met350Thr