Canonical Allele Identifier: CA10567282

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776319G>A , CM000685.2:g.154776319G>A	GRCh38
NC_000023.10:g.154004594G>A , CM000685.1:g.154004594G>A	GRCh37
NC_000023.9:g.153657788G>A	NCBI36
NG_009780.1:g.18564G>A , LRG_55:g.18564G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.1471G>A MANE Select	NP_001354.1:p.Asp491Asn
ENST00000369550.10:c.1471G>A MANE Select	ENSP00000358563.5:p.Asp491Asn
NM_001142463.2:c.1456G>A	NP_001135935.1:p.Asp486Asn
NM_001142463.3:c.1456G>A	NP_001135935.1:p.Asp486Asn
NM_001288747.1:c.*697G>A	NP_001275676.1:n.*697G>A
NM_001288747.2:c.*697G>A	NP_001275676.1:n.*697G>A
NM_001363.4:c.1471G>A	NP_001354.1:p.Asp491Asn
NR_110021.1:n.2172G>A
NR_110021.2:n.2050G>A
NR_110022.1:n.2291G>A
NR_110022.2:n.2169G>A
NR_110023.1:n.2065G>A
NR_110023.2:n.1943G>A
ENST00000369550.9:c.1471G>A	ENSP00000358563.5:p.Asp491Asn
ENST00000413910.6:c.*267G>A	ENSP00000400542.2:n.*267G>A
ENST00000426673.6:c.*913G>A	ENSP00000407253.3:n.*913G>A
ENST00000484317.6:n.1745G>A
ENST00000492372.1:n.288G>A
ENST00000492372.2:n.409G>A
ENST00000620277.4:c.*697G>A	ENSP00000478387.1:n.*697G>A
ENST00000696575.1:c.1456G>A	ENSP00000512730.1:p.Asp486Asn
ENST00000696577.1:c.1471G>A	ENSP00000512731.1:p.Asp491Asn
ENST00000696578.1:c.*423G>A	ENSP00000512732.1:n.*423G>A
ENST00000696579.1:n.2486G>A
ENST00000696580.1:c.1384G>A	ENSP00000512733.1:p.Asp462Asn
ENST00000696581.1:c.*1445G>A	ENSP00000512734.1:n.*1445G>A
ENST00000696582.1:c.*677G>A	ENSP00000512735.1:n.*677G>A
ENST00000696583.1:c.1432G>A	ENSP00000512736.1:p.Asp478Asn
ENST00000696584.1:n.1995G>A
ENST00000696585.1:n.2114G>A
ENST00000696586.1:n.1888G>A
ENST00000696587.1:c.1351G>A	ENSP00000512737.1:p.Asp451Asn
ENST00000696588.1:c.862G>A	ENSP00000513251.1:p.Asp288Asn
ENST00000696589.1:n.1246G>A
ENST00000696590.1:n.2497G>A
ENST00000696591.1:n.820G>A
ENST00000696592.1:n.3752G>A
ENST00000696627.1:c.*297G>A	ENSP00000512764.1:n.*297G>A
ENST00000696628.1:c.1471G>A	ENSP00000512765.1:p.Asp491Asn