Canonical Allele Identifier: CA414899628

Gene: DKC1

Linked Data

• ClinVar Variation Id: 1391861
• ClinVar RCV Id: RCV001911101
• dbSNP Id: rs782434084
• MyVariant Identifiers: chrX:g.154004510C>A (hg19) ; chrX:g.154776235C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154776235C>A , CM000685.2:g.154776235C>A	GRCh38
NC_000023.10:g.154004510C>A , CM000685.1:g.154004510C>A	GRCh37
NC_000023.9:g.153657704C>A	NCBI36
NG_009780.1:g.18480C>A , LRG_55:g.18480C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.*183C>A	ENSP00000400542.2:n.*183C>A
ENST00000426673.6:c.*829C>A	ENSP00000407253.3:n.*829C>A
ENST00000484317.6:n.1661C>A
ENST00000492372.2:n.325C>A
ENST00000696575.1:c.1372C>A	ENSP00000512730.1:p.Pro458Thr
ENST00000696577.1:c.1387C>A	ENSP00000512731.1:p.Pro463Thr
ENST00000696578.1:c.*339C>A	ENSP00000512732.1:n.*339C>A
ENST00000696579.1:n.2402C>A
ENST00000696580.1:c.1300C>A	ENSP00000512733.1:p.Pro434Thr
ENST00000696581.1:c.*1361C>A	ENSP00000512734.1:n.*1361C>A
ENST00000696582.1:c.*593C>A	ENSP00000512735.1:n.*593C>A
ENST00000696583.1:c.1348C>A	ENSP00000512736.1:p.Pro450Thr
ENST00000696584.1:n.1911C>A
ENST00000696585.1:n.2030C>A
ENST00000696586.1:n.1804C>A
ENST00000696587.1:c.1267C>A	ENSP00000512737.1:p.Pro423Thr
ENST00000696588.1:c.778C>A	ENSP00000513251.1:p.Pro260Thr
ENST00000696589.1:n.1162C>A
ENST00000696590.1:n.2413C>A
ENST00000696591.1:n.736C>A
ENST00000696592.1:n.3668C>A
ENST00000696627.1:c.*213C>A	ENSP00000512764.1:n.*213C>A
ENST00000696628.1:c.1387C>A	ENSP00000512765.1:p.Pro463Thr
ENST00000369550.10:c.1387C>A MANE Select	ENSP00000358563.5:p.Pro463Thr
ENST00000369550.9:c.1387C>A	ENSP00000358563.5:p.Pro463Thr
ENST00000412124.5:c.645C>A
ENST00000426673.5:c.806C>A
ENST00000475966.1:n.876C>A
ENST00000492372.1:n.204C>A
ENST00000620277.4:c.*613C>A	ENSP00000478387.1:n.*613C>A
NM_001142463.2:c.1372C>A	NP_001135935.1:p.Pro458Thr
NM_001288747.1:c.*613C>A	NP_001275676.1:n.*613C>A
NM_001363.4:c.1387C>A	NP_001354.1:p.Pro463Thr
NR_110021.1:n.2088C>A
NR_110022.1:n.2207C>A
NR_110023.1:n.1981C>A
NM_001363.5:c.1387C>A MANE Select	NP_001354.1:p.Pro463Thr
NM_001142463.3:c.1372C>A	NP_001135935.1:p.Pro458Thr
NR_110021.2:n.1966C>A
NR_110022.2:n.2085C>A
NR_110023.2:n.1859C>A
NM_001288747.2:c.*613C>A	NP_001275676.1:n.*613C>A