Canonical Allele Identifier: CA414895498

Gene: DKC1

Linked Data

• dbSNP Id: rs1557265137
• gnomAD v2: X-154001477-A-C
• gnomAD v4: X-154773202-A-C
• MyVariant Identifiers: chrX:g.154001477A>C (hg19) ; chrX:g.154773202A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773202A>C , CM000685.2:g.154773202A>C	GRCh38
NC_000023.10:g.154001477A>C , CM000685.1:g.154001477A>C	GRCh37
NC_000023.9:g.153654671A>C	NCBI36
NG_009780.1:g.15447A>C , LRG_55:g.15447A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.988A>C	ENSP00000400542.2:p.Ile330Leu
ENST00000426673.6:c.*491A>C	ENSP00000407253.3:n.*491A>C
ENST00000484317.6:n.893A>C
ENST00000696575.1:c.1108A>C	ENSP00000512730.1:p.Ile370Leu
ENST00000696577.1:c.1108A>C	ENSP00000512731.1:p.Ile370Leu
ENST00000696578.1:c.*60A>C	ENSP00000512732.1:n.*60A>C
ENST00000696579.1:n.1210A>C
ENST00000696580.1:c.1021A>C	ENSP00000512733.1:p.Ile341Leu
ENST00000696581.1:c.*1082A>C	ENSP00000512734.1:n.*1082A>C
ENST00000696582.1:c.*314A>C	ENSP00000512735.1:n.*314A>C
ENST00000696583.1:c.1069A>C	ENSP00000512736.1:p.Ile357Leu
ENST00000696584.1:n.1632A>C
ENST00000696585.1:n.1751A>C
ENST00000696586.1:n.1525A>C
ENST00000696587.1:c.988A>C	ENSP00000512737.1:p.Ile330Leu
ENST00000696588.1:c.499A>C	ENSP00000513251.1:p.Ile167Leu
ENST00000696589.1:n.883A>C
ENST00000696590.1:n.732A>C
ENST00000696591.1:n.457A>C
ENST00000696592.1:n.1987A>C
ENST00000696627.1:c.1108A>C	ENSP00000512764.1:p.Ile370Leu
ENST00000696628.1:c.1108A>C	ENSP00000512765.1:p.Ile370Leu
ENST00000369550.10:c.1108A>C MANE Select	ENSP00000358563.5:p.Ile370Leu
ENST00000369550.9:c.1108A>C	ENSP00000358563.5:p.Ile370Leu
ENST00000412124.5:c.366A>C
ENST00000426673.5:c.468A>C
ENST00000475966.1:n.597A>C
ENST00000481062.1:n.59A>C
ENST00000620277.4:c.1108A>C	ENSP00000478387.1:p.Ile370Leu
NM_001142463.2:c.1108A>C	NP_001135935.1:p.Ile370Leu
NM_001288747.1:c.1108A>C	NP_001275676.1:p.Ile370Leu
NM_001363.4:c.1108A>C	NP_001354.1:p.Ile370Leu
NR_110021.1:n.1809A>C
NR_110022.1:n.1928A>C
NR_110023.1:n.1702A>C
NM_001363.5:c.1108A>C MANE Select	NP_001354.1:p.Ile370Leu
NM_001142463.3:c.1108A>C	NP_001135935.1:p.Ile370Leu
NR_110021.2:n.1687A>C
NR_110022.2:n.1806A>C
NR_110023.2:n.1580A>C
NM_001288747.2:c.1108A>C	NP_001275676.1:p.Ile370Leu