Canonical Allele Identifier: CA414896044

Gene: DKC1

Linked Data

• dbSNP Id: rs2071846043
• MyVariant Identifiers: chrX:g.154001501C>T (hg19) ; chrX:g.154773226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773226C>T , CM000685.2:g.154773226C>T	GRCh38
NC_000023.10:g.154001501C>T , CM000685.1:g.154001501C>T	GRCh37
NC_000023.9:g.153654695C>T	NCBI36
NG_009780.1:g.15471C>T , LRG_55:g.15471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1012C>T	ENSP00000400542.2:p.Arg338Trp
ENST00000426673.6:c.*515C>T	ENSP00000407253.3:n.*515C>T
ENST00000484317.6:n.917C>T
ENST00000696575.1:c.1132C>T	ENSP00000512730.1:p.Arg378Trp
ENST00000696577.1:c.1132C>T	ENSP00000512731.1:p.Arg378Trp
ENST00000696578.1:c.*84C>T	ENSP00000512732.1:n.*84C>T
ENST00000696579.1:n.1234C>T
ENST00000696580.1:c.1045C>T	ENSP00000512733.1:p.Arg349Trp
ENST00000696581.1:c.*1106C>T	ENSP00000512734.1:n.*1106C>T
ENST00000696582.1:c.*338C>T	ENSP00000512735.1:n.*338C>T
ENST00000696583.1:c.1093C>T	ENSP00000512736.1:p.Arg365Trp
ENST00000696584.1:n.1656C>T
ENST00000696585.1:n.1775C>T
ENST00000696586.1:n.1549C>T
ENST00000696587.1:c.1012C>T	ENSP00000512737.1:p.Arg338Trp
ENST00000696588.1:c.523C>T	ENSP00000513251.1:p.Arg175Trp
ENST00000696589.1:n.907C>T
ENST00000696590.1:n.756C>T
ENST00000696591.1:n.481C>T
ENST00000696592.1:n.2011C>T
ENST00000696627.1:c.1132C>T	ENSP00000512764.1:p.Arg378Trp
ENST00000696628.1:c.1132C>T	ENSP00000512765.1:p.Arg378Trp
ENST00000369550.10:c.1132C>T MANE Select	ENSP00000358563.5:p.Arg378Trp
ENST00000369550.9:c.1132C>T	ENSP00000358563.5:p.Arg378Trp
ENST00000412124.5:c.390C>T
ENST00000426673.5:c.492C>T
ENST00000475966.1:n.621C>T
ENST00000481062.1:n.83C>T
ENST00000620277.4:c.1132C>T	ENSP00000478387.1:p.Arg378Trp
NM_001142463.2:c.1132C>T	NP_001135935.1:p.Arg378Trp
NM_001288747.1:c.1132C>T	NP_001275676.1:p.Arg378Trp
NM_001363.4:c.1132C>T	NP_001354.1:p.Arg378Trp
NR_110021.1:n.1833C>T
NR_110022.1:n.1952C>T
NR_110023.1:n.1726C>T
NM_001363.5:c.1132C>T MANE Select	NP_001354.1:p.Arg378Trp
NM_001142463.3:c.1132C>T	NP_001135935.1:p.Arg378Trp
NR_110021.2:n.1711C>T
NR_110022.2:n.1830C>T
NR_110023.2:n.1604C>T
NM_001288747.2:c.1132C>T	NP_001275676.1:p.Arg378Trp