Canonical Allele Identifier: CA414895428

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001470G>C (hg19) ; chrX:g.154773195G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773195G>C , CM000685.2:g.154773195G>C	GRCh38
NC_000023.10:g.154001470G>C , CM000685.1:g.154001470G>C	GRCh37
NC_000023.9:g.153654664G>C	NCBI36
NG_009780.1:g.15440G>C , LRG_55:g.15440G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.981G>C	ENSP00000400542.2:p.Lys327Asn
ENST00000426673.6:c.*484G>C	ENSP00000407253.3:n.*484G>C
ENST00000484317.6:n.886G>C
ENST00000696575.1:c.1101G>C	ENSP00000512730.1:p.Lys367Asn
ENST00000696577.1:c.1101G>C	ENSP00000512731.1:p.Lys367Asn
ENST00000696578.1:c.*53G>C	ENSP00000512732.1:n.*53G>C
ENST00000696579.1:n.1203G>C
ENST00000696580.1:c.1014G>C	ENSP00000512733.1:p.Lys338Asn
ENST00000696581.1:c.*1075G>C	ENSP00000512734.1:n.*1075G>C
ENST00000696582.1:c.*307G>C	ENSP00000512735.1:n.*307G>C
ENST00000696583.1:c.1062G>C	ENSP00000512736.1:p.Lys354Asn
ENST00000696584.1:n.1625G>C
ENST00000696585.1:n.1744G>C
ENST00000696586.1:n.1518G>C
ENST00000696587.1:c.981G>C	ENSP00000512737.1:p.Lys327Asn
ENST00000696588.1:c.492G>C	ENSP00000513251.1:p.Lys164Asn
ENST00000696589.1:n.876G>C
ENST00000696590.1:n.725G>C
ENST00000696591.1:n.450G>C
ENST00000696592.1:n.1980G>C
ENST00000696627.1:c.1101G>C	ENSP00000512764.1:p.Lys367Asn
ENST00000696628.1:c.1101G>C	ENSP00000512765.1:p.Lys367Asn
ENST00000369550.10:c.1101G>C MANE Select	ENSP00000358563.5:p.Lys367Asn
ENST00000369550.9:c.1101G>C	ENSP00000358563.5:p.Lys367Asn
ENST00000412124.5:c.359G>C
ENST00000426673.5:c.461G>C
ENST00000475966.1:n.590G>C
ENST00000481062.1:n.52G>C
ENST00000620277.4:c.1101G>C	ENSP00000478387.1:p.Lys367Asn
NM_001142463.2:c.1101G>C	NP_001135935.1:p.Lys367Asn
NM_001288747.1:c.1101G>C	NP_001275676.1:p.Lys367Asn
NM_001363.4:c.1101G>C	NP_001354.1:p.Lys367Asn
NR_110021.1:n.1802G>C
NR_110022.1:n.1921G>C
NR_110023.1:n.1695G>C
NM_001363.5:c.1101G>C MANE Select	NP_001354.1:p.Lys367Asn
NM_001142463.3:c.1101G>C	NP_001135935.1:p.Lys367Asn
NR_110021.2:n.1680G>C
NR_110022.2:n.1799G>C
NR_110023.2:n.1573G>C
NM_001288747.2:c.1101G>C	NP_001275676.1:p.Lys367Asn