Canonical Allele Identifier: CA10567280

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776304G>A , CM000685.2:g.154776304G>A	GRCh38
NC_000023.10:g.154004579G>A , CM000685.1:g.154004579G>A	GRCh37
NC_000023.9:g.153657773G>A	NCBI36
NG_009780.1:g.18549G>A , LRG_55:g.18549G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.1456G>A MANE Select	NP_001354.1:p.Gly486Arg
ENST00000369550.10:c.1456G>A MANE Select	ENSP00000358563.5:p.Gly486Arg
NM_001142463.2:c.1441G>A	NP_001135935.1:p.Gly481Arg
NM_001142463.3:c.1441G>A	NP_001135935.1:p.Gly481Arg
NM_001288747.1:c.*682G>A	NP_001275676.1:n.*682G>A
NM_001288747.2:c.*682G>A	NP_001275676.1:n.*682G>A
NM_001363.4:c.1456G>A	NP_001354.1:p.Gly486Arg
NR_110021.1:n.2157G>A
NR_110021.2:n.2035G>A
NR_110022.1:n.2276G>A
NR_110022.2:n.2154G>A
NR_110023.1:n.2050G>A
NR_110023.2:n.1928G>A
ENST00000369550.9:c.1456G>A	ENSP00000358563.5:p.Gly486Arg
ENST00000413910.6:c.*252G>A	ENSP00000400542.2:n.*252G>A
ENST00000426673.6:c.*898G>A	ENSP00000407253.3:n.*898G>A
ENST00000484317.6:n.1730G>A
ENST00000492372.1:n.273G>A
ENST00000492372.2:n.394G>A
ENST00000620277.4:c.*682G>A	ENSP00000478387.1:n.*682G>A
ENST00000696575.1:c.1441G>A	ENSP00000512730.1:p.Gly481Arg
ENST00000696577.1:c.1456G>A	ENSP00000512731.1:p.Gly486Arg
ENST00000696578.1:c.*408G>A	ENSP00000512732.1:n.*408G>A
ENST00000696579.1:n.2471G>A
ENST00000696580.1:c.1369G>A	ENSP00000512733.1:p.Gly457Arg
ENST00000696581.1:c.*1430G>A	ENSP00000512734.1:n.*1430G>A
ENST00000696582.1:c.*662G>A	ENSP00000512735.1:n.*662G>A
ENST00000696583.1:c.1417G>A	ENSP00000512736.1:p.Gly473Arg
ENST00000696584.1:n.1980G>A
ENST00000696585.1:n.2099G>A
ENST00000696586.1:n.1873G>A
ENST00000696587.1:c.1336G>A	ENSP00000512737.1:p.Gly446Arg
ENST00000696588.1:c.847G>A	ENSP00000513251.1:p.Gly283Arg
ENST00000696589.1:n.1231G>A
ENST00000696590.1:n.2482G>A
ENST00000696591.1:n.805G>A
ENST00000696592.1:n.3737G>A
ENST00000696627.1:c.*282G>A	ENSP00000512764.1:n.*282G>A
ENST00000696628.1:c.1456G>A	ENSP00000512765.1:p.Gly486Arg