Canonical Allele Identifier: CA414895330

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001457T>C (hg19) ; chrX:g.154773182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773182T>C , CM000685.2:g.154773182T>C	GRCh38
NC_000023.10:g.154001457T>C , CM000685.1:g.154001457T>C	GRCh37
NC_000023.9:g.153654651T>C	NCBI36
NG_009780.1:g.15427T>C , LRG_55:g.15427T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.968T>C	ENSP00000400542.2:p.Val323Ala
ENST00000426673.6:c.*471T>C	ENSP00000407253.3:n.*471T>C
ENST00000484317.6:n.873T>C
ENST00000696575.1:c.1088T>C	ENSP00000512730.1:p.Val363Ala
ENST00000696577.1:c.1088T>C	ENSP00000512731.1:p.Val363Ala
ENST00000696578.1:c.*40T>C	ENSP00000512732.1:n.*40T>C
ENST00000696579.1:n.1190T>C
ENST00000696580.1:c.1001T>C	ENSP00000512733.1:p.Val334Ala
ENST00000696581.1:c.*1062T>C	ENSP00000512734.1:n.*1062T>C
ENST00000696582.1:c.*294T>C	ENSP00000512735.1:n.*294T>C
ENST00000696583.1:c.1049T>C	ENSP00000512736.1:p.Val350Ala
ENST00000696584.1:n.1612T>C
ENST00000696585.1:n.1731T>C
ENST00000696586.1:n.1505T>C
ENST00000696587.1:c.968T>C	ENSP00000512737.1:p.Val323Ala
ENST00000696588.1:c.479T>C	ENSP00000513251.1:p.Val160Ala
ENST00000696589.1:n.863T>C
ENST00000696590.1:n.712T>C
ENST00000696591.1:n.437T>C
ENST00000696592.1:n.1967T>C
ENST00000696627.1:c.1088T>C	ENSP00000512764.1:p.Val363Ala
ENST00000696628.1:c.1088T>C	ENSP00000512765.1:p.Val363Ala
ENST00000369550.10:c.1088T>C MANE Select	ENSP00000358563.5:p.Val363Ala
ENST00000369550.9:c.1088T>C	ENSP00000358563.5:p.Val363Ala
ENST00000412124.5:c.346T>C
ENST00000426673.5:c.448T>C
ENST00000475966.1:n.577T>C
ENST00000481062.1:n.39T>C
ENST00000620277.4:c.1088T>C	ENSP00000478387.1:p.Val363Ala
NM_001142463.2:c.1088T>C	NP_001135935.1:p.Val363Ala
NM_001288747.1:c.1088T>C	NP_001275676.1:p.Val363Ala
NM_001363.4:c.1088T>C	NP_001354.1:p.Val363Ala
NR_110021.1:n.1789T>C
NR_110022.1:n.1908T>C
NR_110023.1:n.1682T>C
NM_001363.5:c.1088T>C MANE Select	NP_001354.1:p.Val363Ala
NM_001142463.3:c.1088T>C	NP_001135935.1:p.Val363Ala
NR_110021.2:n.1667T>C
NR_110022.2:n.1786T>C
NR_110023.2:n.1560T>C
NM_001288747.2:c.1088T>C	NP_001275676.1:p.Val363Ala