Canonical Allele Identifier: CA414899416

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004483G>A (hg19) ; chrX:g.154776208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776208G>A , CM000685.2:g.154776208G>A	GRCh38
NC_000023.10:g.154004483G>A , CM000685.1:g.154004483G>A	GRCh37
NC_000023.9:g.153657677G>A	NCBI36
NG_009780.1:g.18453G>A , LRG_55:g.18453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*156G>A	ENSP00000400542.2:n.*156G>A
ENST00000426673.6:c.*802G>A	ENSP00000407253.3:n.*802G>A
ENST00000484317.6:n.1634G>A
ENST00000492372.2:n.298G>A
ENST00000696575.1:c.1345G>A	ENSP00000512730.1:p.Glu449Lys
ENST00000696577.1:c.1360G>A	ENSP00000512731.1:p.Glu454Lys
ENST00000696578.1:c.*312G>A	ENSP00000512732.1:n.*312G>A
ENST00000696579.1:n.2375G>A
ENST00000696580.1:c.1273G>A	ENSP00000512733.1:p.Glu425Lys
ENST00000696581.1:c.*1334G>A	ENSP00000512734.1:n.*1334G>A
ENST00000696582.1:c.*566G>A	ENSP00000512735.1:n.*566G>A
ENST00000696583.1:c.1321G>A	ENSP00000512736.1:p.Glu441Lys
ENST00000696584.1:n.1884G>A
ENST00000696585.1:n.2003G>A
ENST00000696586.1:n.1777G>A
ENST00000696587.1:c.1240G>A	ENSP00000512737.1:p.Glu414Lys
ENST00000696588.1:c.751G>A	ENSP00000513251.1:p.Glu251Lys
ENST00000696589.1:n.1135G>A
ENST00000696590.1:n.2386G>A
ENST00000696591.1:n.709G>A
ENST00000696592.1:n.3641G>A
ENST00000696627.1:c.*186G>A	ENSP00000512764.1:n.*186G>A
ENST00000696628.1:c.1360G>A	ENSP00000512765.1:p.Glu454Lys
ENST00000369550.10:c.1360G>A MANE Select	ENSP00000358563.5:p.Glu454Lys
ENST00000369550.9:c.1360G>A	ENSP00000358563.5:p.Glu454Lys
ENST00000412124.5:c.618G>A
ENST00000426673.5:c.779G>A
ENST00000475966.1:n.849G>A
ENST00000492372.1:n.177G>A
ENST00000620277.4:c.*586G>A	ENSP00000478387.1:n.*586G>A
NM_001142463.2:c.1345G>A	NP_001135935.1:p.Glu449Lys
NM_001288747.1:c.*586G>A	NP_001275676.1:n.*586G>A
NM_001363.4:c.1360G>A	NP_001354.1:p.Glu454Lys
NR_110021.1:n.2061G>A
NR_110022.1:n.2180G>A
NR_110023.1:n.1954G>A
NM_001363.5:c.1360G>A MANE Select	NP_001354.1:p.Glu454Lys
NM_001142463.3:c.1345G>A	NP_001135935.1:p.Glu449Lys
NR_110021.2:n.1939G>A
NR_110022.2:n.2058G>A
NR_110023.2:n.1832G>A
NM_001288747.2:c.*586G>A	NP_001275676.1:n.*586G>A