Canonical Allele Identifier: CA152571

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776309C>T , CM000685.2:g.154776309C>T	GRCh38
NC_000023.10:g.154004584C>T , CM000685.1:g.154004584C>T	GRCh37
NC_000023.9:g.153657778C>T	NCBI36
NG_009780.1:g.18554C>T , LRG_55:g.18554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*257C>T	ENSP00000400542.2:n.*257C>T
ENST00000426673.6:c.*903C>T	ENSP00000407253.3:n.*903C>T
ENST00000484317.6:n.1735C>T
ENST00000492372.2:n.399C>T
ENST00000696575.1:c.1446C>T	ENSP00000512730.1:p.Ala482=
ENST00000696577.1:c.1461C>T	ENSP00000512731.1:p.Ala487=
ENST00000696578.1:c.*413C>T	ENSP00000512732.1:n.*413C>T
ENST00000696579.1:n.2476C>T
ENST00000696580.1:c.1374C>T	ENSP00000512733.1:p.Ala458=
ENST00000696581.1:c.*1435C>T	ENSP00000512734.1:n.*1435C>T
ENST00000696582.1:c.*667C>T	ENSP00000512735.1:n.*667C>T
ENST00000696583.1:c.1422C>T	ENSP00000512736.1:p.Ala474=
ENST00000696584.1:n.1985C>T
ENST00000696585.1:n.2104C>T
ENST00000696586.1:n.1878C>T
ENST00000696587.1:c.1341C>T	ENSP00000512737.1:p.Ala447=
ENST00000696588.1:c.852C>T	ENSP00000513251.1:p.Ala284=
ENST00000696589.1:n.1236C>T
ENST00000696590.1:n.2487C>T
ENST00000696591.1:n.810C>T
ENST00000696592.1:n.3742C>T
ENST00000696627.1:c.*287C>T	ENSP00000512764.1:n.*287C>T
ENST00000696628.1:c.1461C>T	ENSP00000512765.1:p.Ala487=
ENST00000369550.10:c.1461C>T MANE Select	ENSP00000358563.5:p.Ala487=
ENST00000369550.9:c.1461C>T	ENSP00000358563.5:p.Ala487=
ENST00000492372.1:n.278C>T
ENST00000620277.4:c.*687C>T	ENSP00000478387.1:n.*687C>T
NM_001142463.2:c.1446C>T	NP_001135935.1:p.Ala482=
NM_001288747.1:c.*687C>T	NP_001275676.1:n.*687C>T
NM_001363.4:c.1461C>T	NP_001354.1:p.Ala487=
NR_110021.1:n.2162C>T
NR_110022.1:n.2281C>T
NR_110023.1:n.2055C>T
NM_001363.5:c.1461C>T MANE Select	NP_001354.1:p.Ala487=
NM_001142463.3:c.1446C>T	NP_001135935.1:p.Ala482=
NR_110021.2:n.2040C>T
NR_110022.2:n.2159C>T
NR_110023.2:n.1933C>T
NM_001288747.2:c.*687C>T	NP_001275676.1:n.*687C>T