Canonical Allele Identifier: CA414891714

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997571A>T (hg19) ; chrX:g.154769296A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769296A>T , CM000685.2:g.154769296A>T	GRCh38
NC_000023.10:g.153997571A>T , CM000685.1:g.153997571A>T	GRCh37
NC_000023.9:g.153650765A>T	NCBI36
NG_009780.1:g.11541A>T , LRG_55:g.11541A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.781A>T	ENSP00000400542.2:p.Met261Leu
ENST00000426673.6:c.*284A>T	ENSP00000407253.3:n.*284A>T
ENST00000484317.6:n.686A>T
ENST00000696575.1:c.901A>T	ENSP00000512730.1:p.Met301Leu
ENST00000696576.1:n.1003A>T
ENST00000696577.1:c.901A>T	ENSP00000512731.1:p.Met301Leu
ENST00000696578.1:c.901A>T	ENSP00000512732.1:p.Met301Leu
ENST00000696579.1:n.1003A>T
ENST00000696580.1:c.814A>T	ENSP00000512733.1:p.Met272Leu
ENST00000696581.1:c.*875A>T	ENSP00000512734.1:n.*875A>T
ENST00000696582.1:c.*107A>T	ENSP00000512735.1:n.*107A>T
ENST00000696583.1:c.862A>T	ENSP00000512736.1:p.Met288Leu
ENST00000696584.1:n.1425A>T
ENST00000696585.1:n.1544A>T
ENST00000696586.1:n.1318A>T
ENST00000696587.1:c.781A>T	ENSP00000512737.1:p.Met261Leu
ENST00000696588.1:c.292A>T	ENSP00000513251.1:p.Met98Leu
ENST00000696589.1:n.676A>T
ENST00000696590.1:n.525A>T
ENST00000696591.1:n.250A>T
ENST00000696627.1:c.901A>T	ENSP00000512764.1:p.Met301Leu
ENST00000696628.1:c.901A>T	ENSP00000512765.1:p.Met301Leu
ENST00000369550.10:c.901A>T MANE Select	ENSP00000358563.5:p.Met301Leu
ENST00000369550.9:c.901A>T	ENSP00000358563.5:p.Met301Leu
ENST00000412124.5:c.174-1463A>T
ENST00000426673.5:c.261A>T
ENST00000475966.1:n.390A>T
ENST00000484317.5:n.539A>T
ENST00000620277.4:c.901A>T	ENSP00000478387.1:p.Met301Leu
NM_001142463.2:c.901A>T	NP_001135935.1:p.Met301Leu
NM_001288747.1:c.901A>T	NP_001275676.1:p.Met301Leu
NM_001363.4:c.901A>T	NP_001354.1:p.Met301Leu
NR_110021.1:n.1602A>T
NR_110022.1:n.1721A>T
NR_110023.1:n.1495A>T
NM_001363.5:c.901A>T MANE Select	NP_001354.1:p.Met301Leu
NM_001142463.3:c.901A>T	NP_001135935.1:p.Met301Leu
NR_110021.2:n.1480A>T
NR_110022.2:n.1599A>T
NR_110023.2:n.1373A>T
NM_001288747.2:c.901A>T	NP_001275676.1:p.Met301Leu