Canonical Allele Identifier: CA414891325

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997506A>T (hg19) ; chrX:g.154769231A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769231A>T , CM000685.2:g.154769231A>T	GRCh38
NC_000023.10:g.153997506A>T , CM000685.1:g.153997506A>T	GRCh37
NC_000023.9:g.153650700A>T	NCBI36
NG_009780.1:g.11476A>T , LRG_55:g.11476A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.716A>T	ENSP00000400542.2:p.Glu239Val
ENST00000426673.6:c.*219A>T	ENSP00000407253.3:n.*219A>T
ENST00000484317.6:n.621A>T
ENST00000696575.1:c.836A>T	ENSP00000512730.1:p.Glu279Val
ENST00000696576.1:n.938A>T
ENST00000696577.1:c.836A>T	ENSP00000512731.1:p.Glu279Val
ENST00000696578.1:c.836A>T	ENSP00000512732.1:p.Glu279Val
ENST00000696579.1:n.938A>T
ENST00000696580.1:c.749A>T	ENSP00000512733.1:p.Glu250Val
ENST00000696581.1:c.*810A>T	ENSP00000512734.1:n.*810A>T
ENST00000696582.1:c.*42A>T	ENSP00000512735.1:n.*42A>T
ENST00000696583.1:c.797A>T	ENSP00000512736.1:p.Glu266Val
ENST00000696584.1:n.1360A>T
ENST00000696585.1:n.1479A>T
ENST00000696586.1:n.1253A>T
ENST00000696587.1:c.716A>T	ENSP00000512737.1:p.Glu239Val
ENST00000696588.1:c.227A>T	ENSP00000513251.1:p.Glu76Val
ENST00000696589.1:n.611A>T
ENST00000696590.1:n.460A>T
ENST00000696591.1:n.185A>T
ENST00000696627.1:c.836A>T	ENSP00000512764.1:p.Glu279Val
ENST00000696628.1:c.836A>T	ENSP00000512765.1:p.Glu279Val
ENST00000369550.10:c.836A>T MANE Select	ENSP00000358563.5:p.Glu279Val
ENST00000369550.9:c.836A>T	ENSP00000358563.5:p.Glu279Val
ENST00000412124.5:c.174-1528A>T
ENST00000413910.5:c.716A>T	ENSP00000400542.1:p.Glu239Val
ENST00000426673.5:c.196A>T
ENST00000475966.1:n.325A>T
ENST00000484317.5:n.474A>T
ENST00000620277.4:c.836A>T	ENSP00000478387.1:p.Glu279Val
NM_001142463.2:c.836A>T	NP_001135935.1:p.Glu279Val
NM_001288747.1:c.836A>T	NP_001275676.1:p.Glu279Val
NM_001363.4:c.836A>T	NP_001354.1:p.Glu279Val
NR_110021.1:n.1537A>T
NR_110022.1:n.1656A>T
NR_110023.1:n.1430A>T
NM_001363.5:c.836A>T MANE Select	NP_001354.1:p.Glu279Val
NM_001142463.3:c.836A>T	NP_001135935.1:p.Glu279Val
NR_110021.2:n.1415A>T
NR_110022.2:n.1534A>T
NR_110023.2:n.1308A>T
NM_001288747.2:c.836A>T	NP_001275676.1:p.Glu279Val