Canonical Allele Identifier: CA519357778

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001422C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773147C>T , CM000685.2:g.154773147C>T	GRCh38
NC_000023.10:g.154001422C>T , CM000685.1:g.154001422C>T	GRCh37
NC_000023.9:g.153654616C>T	NCBI36
NG_009780.1:g.15392C>T , LRG_55:g.15392C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.933C>T	ENSP00000400542.2:p.Thr311=
ENST00000426673.6:c.*436C>T	ENSP00000407253.3:n.*436C>T
ENST00000484317.6:n.838C>T
ENST00000696575.1:c.1053C>T	ENSP00000512730.1:p.Thr351=
ENST00000696577.1:c.1053C>T	ENSP00000512731.1:p.Thr351=
ENST00000696578.1:c.*5C>T	ENSP00000512732.1:n.*5C>T
ENST00000696579.1:n.1155C>T
ENST00000696580.1:c.966C>T	ENSP00000512733.1:p.Thr322=
ENST00000696581.1:c.*1027C>T	ENSP00000512734.1:n.*1027C>T
ENST00000696582.1:c.*259C>T	ENSP00000512735.1:n.*259C>T
ENST00000696583.1:c.1014C>T	ENSP00000512736.1:p.Thr338=
ENST00000696584.1:n.1577C>T
ENST00000696585.1:n.1696C>T
ENST00000696586.1:n.1470C>T
ENST00000696587.1:c.933C>T	ENSP00000512737.1:p.Thr311=
ENST00000696588.1:c.444C>T	ENSP00000513251.1:p.Thr148=
ENST00000696589.1:n.828C>T
ENST00000696590.1:n.677C>T
ENST00000696591.1:n.402C>T
ENST00000696592.1:n.1932C>T
ENST00000696627.1:c.1053C>T	ENSP00000512764.1:p.Thr351=
ENST00000696628.1:c.1053C>T	ENSP00000512765.1:p.Thr351=
ENST00000369550.10:c.1053C>T MANE Select	ENSP00000358563.5:p.Thr351=
ENST00000369550.9:c.1053C>T	ENSP00000358563.5:p.Thr351=
ENST00000412124.5:c.311C>T
ENST00000426673.5:c.413C>T
ENST00000475966.1:n.542C>T
ENST00000481062.1:n.4C>T
ENST00000620277.4:c.1053C>T	ENSP00000478387.1:p.Thr351=
NM_001142463.2:c.1053C>T	NP_001135935.1:p.Thr351=
NM_001288747.1:c.1053C>T	NP_001275676.1:p.Thr351=
NM_001363.4:c.1053C>T	NP_001354.1:p.Thr351=
NR_110021.1:n.1754C>T
NR_110022.1:n.1873C>T
NR_110023.1:n.1647C>T
NM_001363.5:c.1053C>T MANE Select	NP_001354.1:p.Thr351=
NM_001142463.3:c.1053C>T	NP_001135935.1:p.Thr351=
NR_110021.2:n.1632C>T
NR_110022.2:n.1751C>T
NR_110023.2:n.1525C>T
NM_001288747.2:c.1053C>T	NP_001275676.1:p.Thr351=