Canonical Allele Identifier: CA414891705

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997569T>G (hg19) ; chrX:g.154769294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769294T>G , CM000685.2:g.154769294T>G	GRCh38
NC_000023.10:g.153997569T>G , CM000685.1:g.153997569T>G	GRCh37
NC_000023.9:g.153650763T>G	NCBI36
NG_009780.1:g.11539T>G , LRG_55:g.11539T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.779T>G	ENSP00000400542.2:p.Val260Gly
ENST00000426673.6:c.*282T>G	ENSP00000407253.3:n.*282T>G
ENST00000484317.6:n.684T>G
ENST00000696575.1:c.899T>G	ENSP00000512730.1:p.Val300Gly
ENST00000696576.1:n.1001T>G
ENST00000696577.1:c.899T>G	ENSP00000512731.1:p.Val300Gly
ENST00000696578.1:c.899T>G	ENSP00000512732.1:p.Val300Gly
ENST00000696579.1:n.1001T>G
ENST00000696580.1:c.812T>G	ENSP00000512733.1:p.Val271Gly
ENST00000696581.1:c.*873T>G	ENSP00000512734.1:n.*873T>G
ENST00000696582.1:c.*105T>G	ENSP00000512735.1:n.*105T>G
ENST00000696583.1:c.860T>G	ENSP00000512736.1:p.Val287Gly
ENST00000696584.1:n.1423T>G
ENST00000696585.1:n.1542T>G
ENST00000696586.1:n.1316T>G
ENST00000696587.1:c.779T>G	ENSP00000512737.1:p.Val260Gly
ENST00000696588.1:c.290T>G	ENSP00000513251.1:p.Val97Gly
ENST00000696589.1:n.674T>G
ENST00000696590.1:n.523T>G
ENST00000696591.1:n.248T>G
ENST00000696627.1:c.899T>G	ENSP00000512764.1:p.Val300Gly
ENST00000696628.1:c.899T>G	ENSP00000512765.1:p.Val300Gly
ENST00000369550.10:c.899T>G MANE Select	ENSP00000358563.5:p.Val300Gly
ENST00000369550.9:c.899T>G	ENSP00000358563.5:p.Val300Gly
ENST00000412124.5:c.174-1465T>G
ENST00000426673.5:c.259T>G
ENST00000475966.1:n.388T>G
ENST00000484317.5:n.537T>G
ENST00000620277.4:c.899T>G	ENSP00000478387.1:p.Val300Gly
NM_001142463.2:c.899T>G	NP_001135935.1:p.Val300Gly
NM_001288747.1:c.899T>G	NP_001275676.1:p.Val300Gly
NM_001363.4:c.899T>G	NP_001354.1:p.Val300Gly
NR_110021.1:n.1600T>G
NR_110022.1:n.1719T>G
NR_110023.1:n.1493T>G
NM_001363.5:c.899T>G MANE Select	NP_001354.1:p.Val300Gly
NM_001142463.3:c.899T>G	NP_001135935.1:p.Val300Gly
NR_110021.2:n.1478T>G
NR_110022.2:n.1597T>G
NR_110023.2:n.1371T>G
NM_001288747.2:c.899T>G	NP_001275676.1:p.Val300Gly