Canonical Allele Identifier: CA414894980

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001418T>G (hg19) ; chrX:g.154773143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773143T>G , CM000685.2:g.154773143T>G	GRCh38
NC_000023.10:g.154001418T>G , CM000685.1:g.154001418T>G	GRCh37
NC_000023.9:g.153654612T>G	NCBI36
NG_009780.1:g.15388T>G , LRG_55:g.15388T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.929T>G	ENSP00000400542.2:p.Met310Arg
ENST00000426673.6:c.*432T>G	ENSP00000407253.3:n.*432T>G
ENST00000484317.6:n.834T>G
ENST00000696575.1:c.1049T>G	ENSP00000512730.1:p.Met350Arg
ENST00000696577.1:c.1049T>G	ENSP00000512731.1:p.Met350Arg
ENST00000696578.1:c.*1T>G	ENSP00000512732.1:n.*1T>G
ENST00000696579.1:n.1151T>G
ENST00000696580.1:c.962T>G	ENSP00000512733.1:p.Met321Arg
ENST00000696581.1:c.*1023T>G	ENSP00000512734.1:n.*1023T>G
ENST00000696582.1:c.*255T>G	ENSP00000512735.1:n.*255T>G
ENST00000696583.1:c.1010T>G	ENSP00000512736.1:p.Met337Arg
ENST00000696584.1:n.1573T>G
ENST00000696585.1:n.1692T>G
ENST00000696586.1:n.1466T>G
ENST00000696587.1:c.929T>G	ENSP00000512737.1:p.Met310Arg
ENST00000696588.1:c.440T>G	ENSP00000513251.1:p.Met147Arg
ENST00000696589.1:n.824T>G
ENST00000696590.1:n.673T>G
ENST00000696591.1:n.398T>G
ENST00000696592.1:n.1928T>G
ENST00000696627.1:c.1049T>G	ENSP00000512764.1:p.Met350Arg
ENST00000696628.1:c.1049T>G	ENSP00000512765.1:p.Met350Arg
ENST00000369550.10:c.1049T>G MANE Select	ENSP00000358563.5:p.Met350Arg
ENST00000369550.9:c.1049T>G	ENSP00000358563.5:p.Met350Arg
ENST00000412124.5:c.307T>G
ENST00000426673.5:c.409T>G
ENST00000475966.1:n.538T>G
ENST00000620277.4:c.1049T>G	ENSP00000478387.1:p.Met350Arg
NM_001142463.2:c.1049T>G	NP_001135935.1:p.Met350Arg
NM_001288747.1:c.1049T>G	NP_001275676.1:p.Met350Arg
NM_001363.4:c.1049T>G	NP_001354.1:p.Met350Arg
NR_110021.1:n.1750T>G
NR_110022.1:n.1869T>G
NR_110023.1:n.1643T>G
NM_001363.5:c.1049T>G MANE Select	NP_001354.1:p.Met350Arg
NM_001142463.3:c.1049T>G	NP_001135935.1:p.Met350Arg
NR_110021.2:n.1628T>G
NR_110022.2:n.1747T>G
NR_110023.2:n.1521T>G
NM_001288747.2:c.1049T>G	NP_001275676.1:p.Met350Arg