Canonical Allele Identifier: CA519364171

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004533G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776258G>A , CM000685.2:g.154776258G>A	GRCh38
NC_000023.10:g.154004533G>A , CM000685.1:g.154004533G>A	GRCh37
NC_000023.9:g.153657727G>A	NCBI36
NG_009780.1:g.18503G>A , LRG_55:g.18503G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*206G>A	ENSP00000400542.2:n.*206G>A
ENST00000426673.6:c.*852G>A	ENSP00000407253.3:n.*852G>A
ENST00000484317.6:n.1684G>A
ENST00000492372.2:n.348G>A
ENST00000696575.1:c.1395G>A	ENSP00000512730.1:p.Lys465=
ENST00000696577.1:c.1410G>A	ENSP00000512731.1:p.Lys470=
ENST00000696578.1:c.*362G>A	ENSP00000512732.1:n.*362G>A
ENST00000696579.1:n.2425G>A
ENST00000696580.1:c.1323G>A	ENSP00000512733.1:p.Lys441=
ENST00000696581.1:c.*1384G>A	ENSP00000512734.1:n.*1384G>A
ENST00000696582.1:c.*616G>A	ENSP00000512735.1:n.*616G>A
ENST00000696583.1:c.1371G>A	ENSP00000512736.1:p.Lys457=
ENST00000696584.1:n.1934G>A
ENST00000696585.1:n.2053G>A
ENST00000696586.1:n.1827G>A
ENST00000696587.1:c.1290G>A	ENSP00000512737.1:p.Lys430=
ENST00000696588.1:c.801G>A	ENSP00000513251.1:p.Lys267=
ENST00000696589.1:n.1185G>A
ENST00000696590.1:n.2436G>A
ENST00000696591.1:n.759G>A
ENST00000696592.1:n.3691G>A
ENST00000696627.1:c.*236G>A	ENSP00000512764.1:n.*236G>A
ENST00000696628.1:c.1410G>A	ENSP00000512765.1:p.Lys470=
ENST00000369550.10:c.1410G>A MANE Select	ENSP00000358563.5:p.Lys470=
ENST00000369550.9:c.1410G>A	ENSP00000358563.5:p.Lys470=
ENST00000412124.5:c.668G>A
ENST00000426673.5:c.829G>A
ENST00000475966.1:n.899G>A
ENST00000492372.1:n.227G>A
ENST00000620277.4:c.*636G>A	ENSP00000478387.1:n.*636G>A
NM_001142463.2:c.1395G>A	NP_001135935.1:p.Lys465=
NM_001288747.1:c.*636G>A	NP_001275676.1:n.*636G>A
NM_001363.4:c.1410G>A	NP_001354.1:p.Lys470=
NR_110021.1:n.2111G>A
NR_110022.1:n.2230G>A
NR_110023.1:n.2004G>A
NM_001363.5:c.1410G>A MANE Select	NP_001354.1:p.Lys470=
NM_001142463.3:c.1395G>A	NP_001135935.1:p.Lys465=
NR_110021.2:n.1989G>A
NR_110022.2:n.2108G>A
NR_110023.2:n.1882G>A
NM_001288747.2:c.*636G>A	NP_001275676.1:n.*636G>A