Canonical Allele Identifier: CA414899361

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004475G>T (hg19) ; chrX:g.154776200G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776200G>T , CM000685.2:g.154776200G>T	GRCh38
NC_000023.10:g.154004475G>T , CM000685.1:g.154004475G>T	GRCh37
NC_000023.9:g.153657669G>T	NCBI36
NG_009780.1:g.18445G>T , LRG_55:g.18445G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*148G>T	ENSP00000400542.2:n.*148G>T
ENST00000426673.6:c.*794G>T	ENSP00000407253.3:n.*794G>T
ENST00000484317.6:n.1626G>T
ENST00000492372.2:n.290G>T
ENST00000696575.1:c.1337G>T	ENSP00000512730.1:p.Ser446Ile
ENST00000696577.1:c.1352G>T	ENSP00000512731.1:p.Ser451Ile
ENST00000696578.1:c.*304G>T	ENSP00000512732.1:n.*304G>T
ENST00000696579.1:n.2367G>T
ENST00000696580.1:c.1265G>T	ENSP00000512733.1:p.Ser422Ile
ENST00000696581.1:c.*1326G>T	ENSP00000512734.1:n.*1326G>T
ENST00000696582.1:c.*558G>T	ENSP00000512735.1:n.*558G>T
ENST00000696583.1:c.1313G>T	ENSP00000512736.1:p.Ser438Ile
ENST00000696584.1:n.1876G>T
ENST00000696585.1:n.1995G>T
ENST00000696586.1:n.1769G>T
ENST00000696587.1:c.1232G>T	ENSP00000512737.1:p.Ser411Ile
ENST00000696588.1:c.743G>T	ENSP00000513251.1:p.Ser248Ile
ENST00000696589.1:n.1127G>T
ENST00000696590.1:n.2378G>T
ENST00000696591.1:n.701G>T
ENST00000696592.1:n.3633G>T
ENST00000696627.1:c.*178G>T	ENSP00000512764.1:n.*178G>T
ENST00000696628.1:c.1352G>T	ENSP00000512765.1:p.Ser451Ile
ENST00000369550.10:c.1352G>T MANE Select	ENSP00000358563.5:p.Ser451Ile
ENST00000369550.9:c.1352G>T	ENSP00000358563.5:p.Ser451Ile
ENST00000412124.5:c.610G>T
ENST00000426673.5:c.771G>T
ENST00000475966.1:n.841G>T
ENST00000492372.1:n.169G>T
ENST00000620277.4:c.*578G>T	ENSP00000478387.1:n.*578G>T
NM_001142463.2:c.1337G>T	NP_001135935.1:p.Ser446Ile
NM_001288747.1:c.*578G>T	NP_001275676.1:n.*578G>T
NM_001363.4:c.1352G>T	NP_001354.1:p.Ser451Ile
NR_110021.1:n.2053G>T
NR_110022.1:n.2172G>T
NR_110023.1:n.1946G>T
NM_001363.5:c.1352G>T MANE Select	NP_001354.1:p.Ser451Ile
NM_001142463.3:c.1337G>T	NP_001135935.1:p.Ser446Ile
NR_110021.2:n.1931G>T
NR_110022.2:n.2050G>T
NR_110023.2:n.1824G>T
NM_001288747.2:c.*578G>T	NP_001275676.1:n.*578G>T