Canonical Allele Identifier: CA414899338
Community Standard Title: NM_001363.5(DKC1):c.1350G>C (p.Glu450Asp)
Gene: DKC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154776198G>C , CM000685.2:g.154776198G>C GRCh38
NC_000023.10:g.154004473G>C , CM000685.1:g.154004473G>C GRCh37
NC_000023.9:g.153657667G>C NCBI36
NG_009780.1:g.18443G>C , LRG_55:g.18443G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001363.5:c.1350G>C MANE Select NP_001354.1:p.Glu450Asp
ENST00000369550.10:c.1350G>C MANE Select ENSP00000358563.5:p.Glu450Asp
NM_001142463.2:c.1335G>C NP_001135935.1:p.Glu445Asp
NM_001142463.3:c.1335G>C NP_001135935.1:p.Glu445Asp
NM_001288747.1:c.*576G>C NP_001275676.1:n.*576G>C
NM_001288747.2:c.*576G>C NP_001275676.1:n.*576G>C
NM_001363.4:c.1350G>C NP_001354.1:p.Glu450Asp
NR_110021.1:n.2051G>C
NR_110021.2:n.1929G>C
NR_110022.1:n.2170G>C
NR_110022.2:n.2048G>C
NR_110023.1:n.1944G>C
NR_110023.2:n.1822G>C
ENST00000369550.9:c.1350G>C ENSP00000358563.5:p.Glu450Asp
ENST00000412124.5:c.608G>C
ENST00000413910.6:c.*146G>C ENSP00000400542.2:n.*146G>C
ENST00000426673.5:c.769G>C
ENST00000426673.6:c.*792G>C ENSP00000407253.3:n.*792G>C
ENST00000475966.1:n.839G>C
ENST00000484317.6:n.1624G>C
ENST00000492372.1:n.167G>C
ENST00000492372.2:n.288G>C
ENST00000620277.4:c.*576G>C ENSP00000478387.1:n.*576G>C
ENST00000696575.1:c.1335G>C ENSP00000512730.1:p.Glu445Asp
ENST00000696577.1:c.1350G>C ENSP00000512731.1:p.Glu450Asp
ENST00000696578.1:c.*302G>C ENSP00000512732.1:n.*302G>C
ENST00000696579.1:n.2365G>C
ENST00000696580.1:c.1263G>C ENSP00000512733.1:p.Glu421Asp
ENST00000696581.1:c.*1324G>C ENSP00000512734.1:n.*1324G>C
ENST00000696582.1:c.*556G>C ENSP00000512735.1:n.*556G>C
ENST00000696583.1:c.1311G>C ENSP00000512736.1:p.Glu437Asp
ENST00000696584.1:n.1874G>C
ENST00000696585.1:n.1993G>C
ENST00000696586.1:n.1767G>C
ENST00000696587.1:c.1230G>C ENSP00000512737.1:p.Glu410Asp
ENST00000696588.1:c.741G>C ENSP00000513251.1:p.Glu247Asp
ENST00000696589.1:n.1125G>C
ENST00000696590.1:n.2376G>C
ENST00000696591.1:n.699G>C
ENST00000696592.1:n.3631G>C
ENST00000696627.1:c.*176G>C ENSP00000512764.1:n.*176G>C
ENST00000696628.1:c.1350G>C ENSP00000512765.1:p.Glu450Asp