Canonical Allele Identifier: CA519356167

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997561A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769286A>G , CM000685.2:g.154769286A>G	GRCh38
NC_000023.10:g.153997561A>G , CM000685.1:g.153997561A>G	GRCh37
NC_000023.9:g.153650755A>G	NCBI36
NG_009780.1:g.11531A>G , LRG_55:g.11531A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.771A>G	ENSP00000400542.2:p.Lys257=
ENST00000426673.6:c.*274A>G	ENSP00000407253.3:n.*274A>G
ENST00000484317.6:n.676A>G
ENST00000696575.1:c.891A>G	ENSP00000512730.1:p.Lys297=
ENST00000696576.1:n.993A>G
ENST00000696577.1:c.891A>G	ENSP00000512731.1:p.Lys297=
ENST00000696578.1:c.891A>G	ENSP00000512732.1:p.Lys297=
ENST00000696579.1:n.993A>G
ENST00000696580.1:c.804A>G	ENSP00000512733.1:p.Lys268=
ENST00000696581.1:c.*865A>G	ENSP00000512734.1:n.*865A>G
ENST00000696582.1:c.*97A>G	ENSP00000512735.1:n.*97A>G
ENST00000696583.1:c.852A>G	ENSP00000512736.1:p.Lys284=
ENST00000696584.1:n.1415A>G
ENST00000696585.1:n.1534A>G
ENST00000696586.1:n.1308A>G
ENST00000696587.1:c.771A>G	ENSP00000512737.1:p.Lys257=
ENST00000696588.1:c.282A>G	ENSP00000513251.1:p.Lys94=
ENST00000696589.1:n.666A>G
ENST00000696590.1:n.515A>G
ENST00000696591.1:n.240A>G
ENST00000696627.1:c.891A>G	ENSP00000512764.1:p.Lys297=
ENST00000696628.1:c.891A>G	ENSP00000512765.1:p.Lys297=
ENST00000369550.10:c.891A>G MANE Select	ENSP00000358563.5:p.Lys297=
ENST00000369550.9:c.891A>G	ENSP00000358563.5:p.Lys297=
ENST00000412124.5:c.174-1473A>G
ENST00000413910.5:c.771A>G	ENSP00000400542.1:p.Lys257=
ENST00000426673.5:c.251A>G
ENST00000475966.1:n.380A>G
ENST00000484317.5:n.529A>G
ENST00000620277.4:c.891A>G	ENSP00000478387.1:p.Lys297=
NM_001142463.2:c.891A>G	NP_001135935.1:p.Lys297=
NM_001288747.1:c.891A>G	NP_001275676.1:p.Lys297=
NM_001363.4:c.891A>G	NP_001354.1:p.Lys297=
NR_110021.1:n.1592A>G
NR_110022.1:n.1711A>G
NR_110023.1:n.1485A>G
NM_001363.5:c.891A>G MANE Select	NP_001354.1:p.Lys297=
NM_001142463.3:c.891A>G	NP_001135935.1:p.Lys297=
NR_110021.2:n.1470A>G
NR_110022.2:n.1589A>G
NR_110023.2:n.1363A>G
NM_001288747.2:c.891A>G	NP_001275676.1:p.Lys297=