Canonical Allele Identifier: CA414894960

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001417A>T (hg19) ; chrX:g.154773142A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773142A>T , CM000685.2:g.154773142A>T	GRCh38
NC_000023.10:g.154001417A>T , CM000685.1:g.154001417A>T	GRCh37
NC_000023.9:g.153654611A>T	NCBI36
NG_009780.1:g.15387A>T , LRG_55:g.15387A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.928A>T	ENSP00000400542.2:p.Met310Leu
ENST00000426673.6:c.*431A>T	ENSP00000407253.3:n.*431A>T
ENST00000484317.6:n.833A>T
ENST00000696575.1:c.1048A>T	ENSP00000512730.1:p.Met350Leu
ENST00000696577.1:c.1048A>T	ENSP00000512731.1:p.Met350Leu
ENST00000696578.1:c.927A>T	ENSP00000512732.1:p.Ter309Tyr
ENST00000696579.1:n.1150A>T
ENST00000696580.1:c.961A>T	ENSP00000512733.1:p.Met321Leu
ENST00000696581.1:c.*1022A>T	ENSP00000512734.1:n.*1022A>T
ENST00000696582.1:c.*254A>T	ENSP00000512735.1:n.*254A>T
ENST00000696583.1:c.1009A>T	ENSP00000512736.1:p.Met337Leu
ENST00000696584.1:n.1572A>T
ENST00000696585.1:n.1691A>T
ENST00000696586.1:n.1465A>T
ENST00000696587.1:c.928A>T	ENSP00000512737.1:p.Met310Leu
ENST00000696588.1:c.439A>T	ENSP00000513251.1:p.Met147Leu
ENST00000696589.1:n.823A>T
ENST00000696590.1:n.672A>T
ENST00000696591.1:n.397A>T
ENST00000696592.1:n.1927A>T
ENST00000696627.1:c.1048A>T	ENSP00000512764.1:p.Met350Leu
ENST00000696628.1:c.1048A>T	ENSP00000512765.1:p.Met350Leu
ENST00000369550.10:c.1048A>T MANE Select	ENSP00000358563.5:p.Met350Leu
ENST00000369550.9:c.1048A>T	ENSP00000358563.5:p.Met350Leu
ENST00000412124.5:c.306A>T
ENST00000426673.5:c.408A>T
ENST00000475966.1:n.537A>T
ENST00000620277.4:c.1048A>T	ENSP00000478387.1:p.Met350Leu
NM_001142463.2:c.1048A>T	NP_001135935.1:p.Met350Leu
NM_001288747.1:c.1048A>T	NP_001275676.1:p.Met350Leu
NM_001363.4:c.1048A>T	NP_001354.1:p.Met350Leu
NR_110021.1:n.1749A>T
NR_110022.1:n.1868A>T
NR_110023.1:n.1642A>T
NM_001363.5:c.1048A>T MANE Select	NP_001354.1:p.Met350Leu
NM_001142463.3:c.1048A>T	NP_001135935.1:p.Met350Leu
NR_110021.2:n.1627A>T
NR_110022.2:n.1746A>T
NR_110023.2:n.1520A>T
NM_001288747.2:c.1048A>T	NP_001275676.1:p.Met350Leu