Canonical Allele Identifier: CA519356024

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997471T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769196T>A , CM000685.2:g.154769196T>A	GRCh38
NC_000023.10:g.153997471T>A , CM000685.1:g.153997471T>A	GRCh37
NC_000023.9:g.153650665T>A	NCBI36
NG_009780.1:g.11441T>A , LRG_55:g.11441T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.681T>A	ENSP00000400542.2:p.Leu227=
ENST00000426673.6:c.*184T>A	ENSP00000407253.3:n.*184T>A
ENST00000484317.6:n.586T>A
ENST00000696575.1:c.801T>A	ENSP00000512730.1:p.Leu267=
ENST00000696576.1:n.903T>A
ENST00000696577.1:c.801T>A	ENSP00000512731.1:p.Leu267=
ENST00000696578.1:c.801T>A	ENSP00000512732.1:p.Leu267=
ENST00000696579.1:n.903T>A
ENST00000696580.1:c.714T>A	ENSP00000512733.1:p.Leu238=
ENST00000696581.1:c.*775T>A	ENSP00000512734.1:n.*775T>A
ENST00000696582.1:c.*7T>A	ENSP00000512735.1:n.*7T>A
ENST00000696583.1:c.772-10T>A	ENSP00000512736.1:n.772-10T>A
ENST00000696584.1:n.1325T>A
ENST00000696585.1:n.1444T>A
ENST00000696586.1:n.1218T>A
ENST00000696587.1:c.681T>A	ENSP00000512737.1:p.Leu227=
ENST00000696588.1:c.192T>A	ENSP00000513251.1:p.Leu64=
ENST00000696589.1:n.576T>A
ENST00000696590.1:n.425T>A
ENST00000696591.1:n.150T>A
ENST00000696627.1:c.801T>A	ENSP00000512764.1:p.Leu267=
ENST00000696628.1:c.801T>A	ENSP00000512765.1:p.Leu267=
ENST00000369550.10:c.801T>A MANE Select	ENSP00000358563.5:p.Leu267=
ENST00000369550.9:c.801T>A	ENSP00000358563.5:p.Leu267=
ENST00000412124.5:c.174-1563T>A
ENST00000413910.5:c.681T>A	ENSP00000400542.1:p.Leu227=
ENST00000426673.5:c.161T>A
ENST00000452771.5:c.694T>A	ENSP00000407325.1:n.694T>A
ENST00000475966.1:n.290T>A
ENST00000484317.5:n.439T>A
ENST00000620277.4:c.801T>A	ENSP00000478387.1:p.Leu267=
NM_001142463.2:c.801T>A	NP_001135935.1:p.Leu267=
NM_001288747.1:c.801T>A	NP_001275676.1:p.Leu267=
NM_001363.4:c.801T>A	NP_001354.1:p.Leu267=
NR_110021.1:n.1502T>A
NR_110022.1:n.1621T>A
NR_110023.1:n.1395T>A
NM_001363.5:c.801T>A MANE Select	NP_001354.1:p.Leu267=
NM_001142463.3:c.801T>A	NP_001135935.1:p.Leu267=
NR_110021.2:n.1380T>A
NR_110022.2:n.1499T>A
NR_110023.2:n.1273T>A
NM_001288747.2:c.801T>A	NP_001275676.1:p.Leu267=