Canonical Allele Identifier: CA414895085

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001430T>C (hg19) ; chrX:g.154773155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773155T>C , CM000685.2:g.154773155T>C	GRCh38
NC_000023.10:g.154001430T>C , CM000685.1:g.154001430T>C	GRCh37
NC_000023.9:g.153654624T>C	NCBI36
NG_009780.1:g.15400T>C , LRG_55:g.15400T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.941T>C	ENSP00000400542.2:p.Val314Ala
ENST00000426673.6:c.*444T>C	ENSP00000407253.3:n.*444T>C
ENST00000484317.6:n.846T>C
ENST00000696575.1:c.1061T>C	ENSP00000512730.1:p.Val354Ala
ENST00000696577.1:c.1061T>C	ENSP00000512731.1:p.Val354Ala
ENST00000696578.1:c.*13T>C	ENSP00000512732.1:n.*13T>C
ENST00000696579.1:n.1163T>C
ENST00000696580.1:c.974T>C	ENSP00000512733.1:p.Val325Ala
ENST00000696581.1:c.*1035T>C	ENSP00000512734.1:n.*1035T>C
ENST00000696582.1:c.*267T>C	ENSP00000512735.1:n.*267T>C
ENST00000696583.1:c.1022T>C	ENSP00000512736.1:p.Val341Ala
ENST00000696584.1:n.1585T>C
ENST00000696585.1:n.1704T>C
ENST00000696586.1:n.1478T>C
ENST00000696587.1:c.941T>C	ENSP00000512737.1:p.Val314Ala
ENST00000696588.1:c.452T>C	ENSP00000513251.1:p.Val151Ala
ENST00000696589.1:n.836T>C
ENST00000696590.1:n.685T>C
ENST00000696591.1:n.410T>C
ENST00000696592.1:n.1940T>C
ENST00000696627.1:c.1061T>C	ENSP00000512764.1:p.Val354Ala
ENST00000696628.1:c.1061T>C	ENSP00000512765.1:p.Val354Ala
ENST00000369550.10:c.1061T>C MANE Select	ENSP00000358563.5:p.Val354Ala
ENST00000369550.9:c.1061T>C	ENSP00000358563.5:p.Val354Ala
ENST00000412124.5:c.319T>C
ENST00000426673.5:c.421T>C
ENST00000475966.1:n.550T>C
ENST00000481062.1:n.12T>C
ENST00000620277.4:c.1061T>C	ENSP00000478387.1:p.Val354Ala
NM_001142463.2:c.1061T>C	NP_001135935.1:p.Val354Ala
NM_001288747.1:c.1061T>C	NP_001275676.1:p.Val354Ala
NM_001363.4:c.1061T>C	NP_001354.1:p.Val354Ala
NR_110021.1:n.1762T>C
NR_110022.1:n.1881T>C
NR_110023.1:n.1655T>C
NM_001363.5:c.1061T>C MANE Select	NP_001354.1:p.Val354Ala
NM_001142463.3:c.1061T>C	NP_001135935.1:p.Val354Ala
NR_110021.2:n.1640T>C
NR_110022.2:n.1759T>C
NR_110023.2:n.1533T>C
NM_001288747.2:c.1061T>C	NP_001275676.1:p.Val354Ala