Canonical Allele Identifier: CA414894989

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001419G>T (hg19) ; chrX:g.154773144G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773144G>T , CM000685.2:g.154773144G>T	GRCh38
NC_000023.10:g.154001419G>T , CM000685.1:g.154001419G>T	GRCh37
NC_000023.9:g.153654613G>T	NCBI36
NG_009780.1:g.15389G>T , LRG_55:g.15389G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.930G>T	ENSP00000400542.2:p.Met310Ile
ENST00000426673.6:c.*433G>T	ENSP00000407253.3:n.*433G>T
ENST00000484317.6:n.835G>T
ENST00000696575.1:c.1050G>T	ENSP00000512730.1:p.Met350Ile
ENST00000696577.1:c.1050G>T	ENSP00000512731.1:p.Met350Ile
ENST00000696578.1:c.*2G>T	ENSP00000512732.1:n.*2G>T
ENST00000696579.1:n.1152G>T
ENST00000696580.1:c.963G>T	ENSP00000512733.1:p.Met321Ile
ENST00000696581.1:c.*1024G>T	ENSP00000512734.1:n.*1024G>T
ENST00000696582.1:c.*256G>T	ENSP00000512735.1:n.*256G>T
ENST00000696583.1:c.1011G>T	ENSP00000512736.1:p.Met337Ile
ENST00000696584.1:n.1574G>T
ENST00000696585.1:n.1693G>T
ENST00000696586.1:n.1467G>T
ENST00000696587.1:c.930G>T	ENSP00000512737.1:p.Met310Ile
ENST00000696588.1:c.441G>T	ENSP00000513251.1:p.Met147Ile
ENST00000696589.1:n.825G>T
ENST00000696590.1:n.674G>T
ENST00000696591.1:n.399G>T
ENST00000696592.1:n.1929G>T
ENST00000696627.1:c.1050G>T	ENSP00000512764.1:p.Met350Ile
ENST00000696628.1:c.1050G>T	ENSP00000512765.1:p.Met350Ile
ENST00000369550.10:c.1050G>T MANE Select	ENSP00000358563.5:p.Met350Ile
ENST00000369550.9:c.1050G>T	ENSP00000358563.5:p.Met350Ile
ENST00000412124.5:c.308G>T
ENST00000426673.5:c.410G>T
ENST00000475966.1:n.539G>T
ENST00000481062.1:n.1G>T
ENST00000620277.4:c.1050G>T	ENSP00000478387.1:p.Met350Ile
NM_001142463.2:c.1050G>T	NP_001135935.1:p.Met350Ile
NM_001288747.1:c.1050G>T	NP_001275676.1:p.Met350Ile
NM_001363.4:c.1050G>T	NP_001354.1:p.Met350Ile
NR_110021.1:n.1751G>T
NR_110022.1:n.1870G>T
NR_110023.1:n.1644G>T
NM_001363.5:c.1050G>T MANE Select	NP_001354.1:p.Met350Ile
NM_001142463.3:c.1050G>T	NP_001135935.1:p.Met350Ile
NR_110021.2:n.1629G>T
NR_110022.2:n.1748G>T
NR_110023.2:n.1522G>T
NM_001288747.2:c.1050G>T	NP_001275676.1:p.Met350Ile