Canonical Allele Identifier: CA414896038

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001499C>T (hg19) ; chrX:g.154773224C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773224C>T , CM000685.2:g.154773224C>T	GRCh38
NC_000023.10:g.154001499C>T , CM000685.1:g.154001499C>T	GRCh37
NC_000023.9:g.153654693C>T	NCBI36
NG_009780.1:g.15469C>T , LRG_55:g.15469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.1010C>T	ENSP00000400542.2:p.Pro337Leu
ENST00000426673.6:c.*513C>T	ENSP00000407253.3:n.*513C>T
ENST00000484317.6:n.915C>T
ENST00000696575.1:c.1130C>T	ENSP00000512730.1:p.Pro377Leu
ENST00000696577.1:c.1130C>T	ENSP00000512731.1:p.Pro377Leu
ENST00000696578.1:c.*82C>T	ENSP00000512732.1:n.*82C>T
ENST00000696579.1:n.1232C>T
ENST00000696580.1:c.1043C>T	ENSP00000512733.1:p.Pro348Leu
ENST00000696581.1:c.*1104C>T	ENSP00000512734.1:n.*1104C>T
ENST00000696582.1:c.*336C>T	ENSP00000512735.1:n.*336C>T
ENST00000696583.1:c.1091C>T	ENSP00000512736.1:p.Pro364Leu
ENST00000696584.1:n.1654C>T
ENST00000696585.1:n.1773C>T
ENST00000696586.1:n.1547C>T
ENST00000696587.1:c.1010C>T	ENSP00000512737.1:p.Pro337Leu
ENST00000696588.1:c.521C>T	ENSP00000513251.1:p.Pro174Leu
ENST00000696589.1:n.905C>T
ENST00000696590.1:n.754C>T
ENST00000696591.1:n.479C>T
ENST00000696592.1:n.2009C>T
ENST00000696627.1:c.1130C>T	ENSP00000512764.1:p.Pro377Leu
ENST00000696628.1:c.1130C>T	ENSP00000512765.1:p.Pro377Leu
ENST00000369550.10:c.1130C>T MANE Select	ENSP00000358563.5:p.Pro377Leu
ENST00000369550.9:c.1130C>T	ENSP00000358563.5:p.Pro377Leu
ENST00000412124.5:c.388C>T
ENST00000426673.5:c.490C>T
ENST00000475966.1:n.619C>T
ENST00000481062.1:n.81C>T
ENST00000620277.4:c.1130C>T	ENSP00000478387.1:p.Pro377Leu
NM_001142463.2:c.1130C>T	NP_001135935.1:p.Pro377Leu
NM_001288747.1:c.1130C>T	NP_001275676.1:p.Pro377Leu
NM_001363.4:c.1130C>T	NP_001354.1:p.Pro377Leu
NR_110021.1:n.1831C>T
NR_110022.1:n.1950C>T
NR_110023.1:n.1724C>T
NM_001363.5:c.1130C>T MANE Select	NP_001354.1:p.Pro377Leu
NM_001142463.3:c.1130C>T	NP_001135935.1:p.Pro377Leu
NR_110021.2:n.1709C>T
NR_110022.2:n.1828C>T
NR_110023.2:n.1602C>T
NM_001288747.2:c.1130C>T	NP_001275676.1:p.Pro377Leu