Canonical Allele Identifier: CA414891141

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997466G>T (hg19) ; chrX:g.154769191G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769191G>T , CM000685.2:g.154769191G>T	GRCh38
NC_000023.10:g.153997466G>T , CM000685.1:g.153997466G>T	GRCh37
NC_000023.9:g.153650660G>T	NCBI36
NG_009780.1:g.11436G>T , LRG_55:g.11436G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.676G>T	ENSP00000400542.2:p.Val226Leu
ENST00000426673.6:c.*179G>T	ENSP00000407253.3:n.*179G>T
ENST00000484317.6:n.581G>T
ENST00000696575.1:c.796G>T	ENSP00000512730.1:p.Val266Leu
ENST00000696576.1:n.898G>T
ENST00000696577.1:c.796G>T	ENSP00000512731.1:p.Val266Leu
ENST00000696578.1:c.796G>T	ENSP00000512732.1:p.Val266Leu
ENST00000696579.1:n.898G>T
ENST00000696580.1:c.709G>T	ENSP00000512733.1:p.Val237Leu
ENST00000696581.1:c.*770G>T	ENSP00000512734.1:n.*770G>T
ENST00000696582.1:c.*2G>T	ENSP00000512735.1:n.*2G>T
ENST00000696583.1:c.772-15G>T	ENSP00000512736.1:n.772-15G>T
ENST00000696584.1:n.1320G>T
ENST00000696585.1:n.1439G>T
ENST00000696586.1:n.1213G>T
ENST00000696587.1:c.676G>T	ENSP00000512737.1:p.Val226Leu
ENST00000696588.1:c.187G>T	ENSP00000513251.1:p.Val63Leu
ENST00000696589.1:n.571G>T
ENST00000696590.1:n.420G>T
ENST00000696591.1:n.145G>T
ENST00000696627.1:c.796G>T	ENSP00000512764.1:p.Val266Leu
ENST00000696628.1:c.796G>T	ENSP00000512765.1:p.Val266Leu
ENST00000369550.10:c.796G>T MANE Select	ENSP00000358563.5:p.Val266Leu
ENST00000369550.9:c.796G>T	ENSP00000358563.5:p.Val266Leu
ENST00000412124.5:c.174-1568G>T
ENST00000413910.5:c.676G>T	ENSP00000400542.1:p.Val226Leu
ENST00000426673.5:c.156G>T
ENST00000452771.5:c.689G>T	ENSP00000407325.1:n.689G>T
ENST00000475966.1:n.285G>T
ENST00000484317.5:n.434G>T
ENST00000620277.4:c.796G>T	ENSP00000478387.1:p.Val266Leu
NM_001142463.2:c.796G>T	NP_001135935.1:p.Val266Leu
NM_001288747.1:c.796G>T	NP_001275676.1:p.Val266Leu
NM_001363.4:c.796G>T	NP_001354.1:p.Val266Leu
NR_110021.1:n.1497G>T
NR_110022.1:n.1616G>T
NR_110023.1:n.1390G>T
NM_001363.5:c.796G>T MANE Select	NP_001354.1:p.Val266Leu
NM_001142463.3:c.796G>T	NP_001135935.1:p.Val266Leu
NR_110021.2:n.1375G>T
NR_110022.2:n.1494G>T
NR_110023.2:n.1268G>T
NM_001288747.2:c.796G>T	NP_001275676.1:p.Val266Leu