Canonical Allele Identifier: CA414899607

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154004507G>T (hg19) ; chrX:g.154776232G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776232G>T , CM000685.2:g.154776232G>T	GRCh38
NC_000023.10:g.154004507G>T , CM000685.1:g.154004507G>T	GRCh37
NC_000023.9:g.153657701G>T	NCBI36
NG_009780.1:g.18477G>T , LRG_55:g.18477G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*180G>T	ENSP00000400542.2:n.*180G>T
ENST00000426673.6:c.*826G>T	ENSP00000407253.3:n.*826G>T
ENST00000484317.6:n.1658G>T
ENST00000492372.2:n.322G>T
ENST00000696575.1:c.1369G>T	ENSP00000512730.1:p.Ala457Ser
ENST00000696577.1:c.1384G>T	ENSP00000512731.1:p.Ala462Ser
ENST00000696578.1:c.*336G>T	ENSP00000512732.1:n.*336G>T
ENST00000696579.1:n.2399G>T
ENST00000696580.1:c.1297G>T	ENSP00000512733.1:p.Ala433Ser
ENST00000696581.1:c.*1358G>T	ENSP00000512734.1:n.*1358G>T
ENST00000696582.1:c.*590G>T	ENSP00000512735.1:n.*590G>T
ENST00000696583.1:c.1345G>T	ENSP00000512736.1:p.Ala449Ser
ENST00000696584.1:n.1908G>T
ENST00000696585.1:n.2027G>T
ENST00000696586.1:n.1801G>T
ENST00000696587.1:c.1264G>T	ENSP00000512737.1:p.Ala422Ser
ENST00000696588.1:c.775G>T	ENSP00000513251.1:p.Ala259Ser
ENST00000696589.1:n.1159G>T
ENST00000696590.1:n.2410G>T
ENST00000696591.1:n.733G>T
ENST00000696592.1:n.3665G>T
ENST00000696627.1:c.*210G>T	ENSP00000512764.1:n.*210G>T
ENST00000696628.1:c.1384G>T	ENSP00000512765.1:p.Ala462Ser
ENST00000369550.10:c.1384G>T MANE Select	ENSP00000358563.5:p.Ala462Ser
ENST00000369550.9:c.1384G>T	ENSP00000358563.5:p.Ala462Ser
ENST00000412124.5:c.642G>T
ENST00000426673.5:c.803G>T
ENST00000475966.1:n.873G>T
ENST00000492372.1:n.201G>T
ENST00000620277.4:c.*610G>T	ENSP00000478387.1:n.*610G>T
NM_001142463.2:c.1369G>T	NP_001135935.1:p.Ala457Ser
NM_001288747.1:c.*610G>T	NP_001275676.1:n.*610G>T
NM_001363.4:c.1384G>T	NP_001354.1:p.Ala462Ser
NR_110021.1:n.2085G>T
NR_110022.1:n.2204G>T
NR_110023.1:n.1978G>T
NM_001363.5:c.1384G>T MANE Select	NP_001354.1:p.Ala462Ser
NM_001142463.3:c.1369G>T	NP_001135935.1:p.Ala457Ser
NR_110021.2:n.1963G>T
NR_110022.2:n.2082G>T
NR_110023.2:n.1856G>T
NM_001288747.2:c.*610G>T	NP_001275676.1:n.*610G>T