Canonical Allele Identifier: CA414891112

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997459G>T (hg19) ; chrX:g.154769184G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769184G>T , CM000685.2:g.154769184G>T	GRCh38
NC_000023.10:g.153997459G>T , CM000685.1:g.153997459G>T	GRCh37
NC_000023.9:g.153650653G>T	NCBI36
NG_009780.1:g.11429G>T , LRG_55:g.11429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.669G>T	ENSP00000400542.2:p.Met223Ile
ENST00000426673.6:c.*172G>T	ENSP00000407253.3:n.*172G>T
ENST00000484317.6:n.574G>T
ENST00000696575.1:c.789G>T	ENSP00000512730.1:p.Met263Ile
ENST00000696576.1:n.891G>T
ENST00000696577.1:c.789G>T	ENSP00000512731.1:p.Met263Ile
ENST00000696578.1:c.789G>T	ENSP00000512732.1:p.Met263Ile
ENST00000696579.1:n.891G>T
ENST00000696580.1:c.702G>T	ENSP00000512733.1:p.Met234Ile
ENST00000696581.1:c.*763G>T	ENSP00000512734.1:n.*763G>T
ENST00000696582.1:c.658G>T	ENSP00000512735.1:p.Ala220Ser
ENST00000696583.1:c.772-22G>T	ENSP00000512736.1:n.772-22G>T
ENST00000696584.1:n.1313G>T
ENST00000696585.1:n.1432G>T
ENST00000696586.1:n.1206G>T
ENST00000696587.1:c.669G>T	ENSP00000512737.1:p.Met223Ile
ENST00000696588.1:c.180G>T	ENSP00000513251.1:p.Met60Ile
ENST00000696589.1:n.564G>T
ENST00000696590.1:n.413G>T
ENST00000696591.1:n.138G>T
ENST00000696627.1:c.789G>T	ENSP00000512764.1:p.Met263Ile
ENST00000696628.1:c.789G>T	ENSP00000512765.1:p.Met263Ile
ENST00000369550.10:c.789G>T MANE Select	ENSP00000358563.5:p.Met263Ile
ENST00000369550.9:c.789G>T	ENSP00000358563.5:p.Met263Ile
ENST00000412124.5:c.174-1575G>T
ENST00000413910.5:c.669G>T	ENSP00000400542.1:p.Met223Ile
ENST00000426673.5:c.149G>T
ENST00000452771.5:c.682G>T	ENSP00000407325.1:n.682G>T
ENST00000475966.1:n.278G>T
ENST00000484317.5:n.427G>T
ENST00000620277.4:c.789G>T	ENSP00000478387.1:p.Met263Ile
NM_001142463.2:c.789G>T	NP_001135935.1:p.Met263Ile
NM_001288747.1:c.789G>T	NP_001275676.1:p.Met263Ile
NM_001363.4:c.789G>T	NP_001354.1:p.Met263Ile
NR_110021.1:n.1490G>T
NR_110022.1:n.1609G>T
NR_110023.1:n.1383G>T
NM_001363.5:c.789G>T MANE Select	NP_001354.1:p.Met263Ile
NM_001142463.3:c.789G>T	NP_001135935.1:p.Met263Ile
NR_110021.2:n.1368G>T
NR_110022.2:n.1487G>T
NR_110023.2:n.1261G>T
NM_001288747.2:c.789G>T	NP_001275676.1:p.Met263Ile