Canonical Allele Identifier: CA414894886

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001410T>G (hg19) ; chrX:g.154773135T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773135T>G , CM000685.2:g.154773135T>G	GRCh38
NC_000023.10:g.154001410T>G , CM000685.1:g.154001410T>G	GRCh37
NC_000023.9:g.153654604T>G	NCBI36
NG_009780.1:g.15380T>G , LRG_55:g.15380T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.921T>G	ENSP00000400542.2:p.Ile307Met
ENST00000426673.6:c.*424T>G	ENSP00000407253.3:n.*424T>G
ENST00000484317.6:n.826T>G
ENST00000696575.1:c.1041T>G	ENSP00000512730.1:p.Ile347Met
ENST00000696577.1:c.1041T>G	ENSP00000512731.1:p.Ile347Met
ENST00000696578.1:c.920T>G	ENSP00000512732.1:p.Leu307Trp
ENST00000696579.1:n.1143T>G
ENST00000696580.1:c.954T>G	ENSP00000512733.1:p.Ile318Met
ENST00000696581.1:c.*1015T>G	ENSP00000512734.1:n.*1015T>G
ENST00000696582.1:c.*247T>G	ENSP00000512735.1:n.*247T>G
ENST00000696583.1:c.1002T>G	ENSP00000512736.1:p.Ile334Met
ENST00000696584.1:n.1565T>G
ENST00000696585.1:n.1684T>G
ENST00000696586.1:n.1458T>G
ENST00000696587.1:c.921T>G	ENSP00000512737.1:p.Ile307Met
ENST00000696588.1:c.432T>G	ENSP00000513251.1:p.Ile144Met
ENST00000696589.1:n.816T>G
ENST00000696590.1:n.665T>G
ENST00000696591.1:n.390T>G
ENST00000696592.1:n.1920T>G
ENST00000696627.1:c.1041T>G	ENSP00000512764.1:p.Ile347Met
ENST00000696628.1:c.1041T>G	ENSP00000512765.1:p.Ile347Met
ENST00000369550.10:c.1041T>G MANE Select	ENSP00000358563.5:p.Ile347Met
ENST00000369550.9:c.1041T>G	ENSP00000358563.5:p.Ile347Met
ENST00000412124.5:c.299T>G
ENST00000426673.5:c.401T>G
ENST00000475966.1:n.530T>G
ENST00000620277.4:c.1041T>G	ENSP00000478387.1:p.Ile347Met
NM_001142463.2:c.1041T>G	NP_001135935.1:p.Ile347Met
NM_001288747.1:c.1041T>G	NP_001275676.1:p.Ile347Met
NM_001363.4:c.1041T>G	NP_001354.1:p.Ile347Met
NR_110021.1:n.1742T>G
NR_110022.1:n.1861T>G
NR_110023.1:n.1635T>G
NM_001363.5:c.1041T>G MANE Select	NP_001354.1:p.Ile347Met
NM_001142463.3:c.1041T>G	NP_001135935.1:p.Ile347Met
NR_110021.2:n.1620T>G
NR_110022.2:n.1739T>G
NR_110023.2:n.1513T>G
NM_001288747.2:c.1041T>G	NP_001275676.1:p.Ile347Met