Canonical Allele Identifier: CA414891385

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997517C>T (hg19) ; chrX:g.154769242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769242C>T , CM000685.2:g.154769242C>T	GRCh38
NC_000023.10:g.153997517C>T , CM000685.1:g.153997517C>T	GRCh37
NC_000023.9:g.153650711C>T	NCBI36
NG_009780.1:g.11487C>T , LRG_55:g.11487C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.727C>T	ENSP00000400542.2:p.Arg243Trp
ENST00000426673.6:c.*230C>T	ENSP00000407253.3:n.*230C>T
ENST00000484317.6:n.632C>T
ENST00000696575.1:c.847C>T	ENSP00000512730.1:p.Arg283Trp
ENST00000696576.1:n.949C>T
ENST00000696577.1:c.847C>T	ENSP00000512731.1:p.Arg283Trp
ENST00000696578.1:c.847C>T	ENSP00000512732.1:p.Arg283Trp
ENST00000696579.1:n.949C>T
ENST00000696580.1:c.760C>T	ENSP00000512733.1:p.Arg254Trp
ENST00000696581.1:c.*821C>T	ENSP00000512734.1:n.*821C>T
ENST00000696582.1:c.*53C>T	ENSP00000512735.1:n.*53C>T
ENST00000696583.1:c.808C>T	ENSP00000512736.1:p.Arg270Trp
ENST00000696584.1:n.1371C>T
ENST00000696585.1:n.1490C>T
ENST00000696586.1:n.1264C>T
ENST00000696587.1:c.727C>T	ENSP00000512737.1:p.Arg243Trp
ENST00000696588.1:c.238C>T	ENSP00000513251.1:p.Arg80Trp
ENST00000696589.1:n.622C>T
ENST00000696590.1:n.471C>T
ENST00000696591.1:n.196C>T
ENST00000696627.1:c.847C>T	ENSP00000512764.1:p.Arg283Trp
ENST00000696628.1:c.847C>T	ENSP00000512765.1:p.Arg283Trp
ENST00000369550.10:c.847C>T MANE Select	ENSP00000358563.5:p.Arg283Trp
ENST00000369550.9:c.847C>T	ENSP00000358563.5:p.Arg283Trp
ENST00000412124.5:c.174-1517C>T
ENST00000413910.5:c.727C>T	ENSP00000400542.1:p.Arg243Trp
ENST00000426673.5:c.207C>T
ENST00000475966.1:n.336C>T
ENST00000484317.5:n.485C>T
ENST00000620277.4:c.847C>T	ENSP00000478387.1:p.Arg283Trp
NM_001142463.2:c.847C>T	NP_001135935.1:p.Arg283Trp
NM_001288747.1:c.847C>T	NP_001275676.1:p.Arg283Trp
NM_001363.4:c.847C>T	NP_001354.1:p.Arg283Trp
NR_110021.1:n.1548C>T
NR_110022.1:n.1667C>T
NR_110023.1:n.1441C>T
NM_001363.5:c.847C>T MANE Select	NP_001354.1:p.Arg283Trp
NM_001142463.3:c.847C>T	NP_001135935.1:p.Arg283Trp
NR_110021.2:n.1426C>T
NR_110022.2:n.1545C>T
NR_110023.2:n.1319C>T
NM_001288747.2:c.847C>T	NP_001275676.1:p.Arg283Trp