Canonical Allele Identifier: CA414895322

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.154001456G>T (hg19) ; chrX:g.154773181G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154773181G>T , CM000685.2:g.154773181G>T	GRCh38
NC_000023.10:g.154001456G>T , CM000685.1:g.154001456G>T	GRCh37
NC_000023.9:g.153654650G>T	NCBI36
NG_009780.1:g.15426G>T , LRG_55:g.15426G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.967G>T	ENSP00000400542.2:p.Val323Leu
ENST00000426673.6:c.*470G>T	ENSP00000407253.3:n.*470G>T
ENST00000484317.6:n.872G>T
ENST00000696575.1:c.1087G>T	ENSP00000512730.1:p.Val363Leu
ENST00000696577.1:c.1087G>T	ENSP00000512731.1:p.Val363Leu
ENST00000696578.1:c.*39G>T	ENSP00000512732.1:n.*39G>T
ENST00000696579.1:n.1189G>T
ENST00000696580.1:c.1000G>T	ENSP00000512733.1:p.Val334Leu
ENST00000696581.1:c.*1061G>T	ENSP00000512734.1:n.*1061G>T
ENST00000696582.1:c.*293G>T	ENSP00000512735.1:n.*293G>T
ENST00000696583.1:c.1048G>T	ENSP00000512736.1:p.Val350Leu
ENST00000696584.1:n.1611G>T
ENST00000696585.1:n.1730G>T
ENST00000696586.1:n.1504G>T
ENST00000696587.1:c.967G>T	ENSP00000512737.1:p.Val323Leu
ENST00000696588.1:c.478G>T	ENSP00000513251.1:p.Val160Leu
ENST00000696589.1:n.862G>T
ENST00000696590.1:n.711G>T
ENST00000696591.1:n.436G>T
ENST00000696592.1:n.1966G>T
ENST00000696627.1:c.1087G>T	ENSP00000512764.1:p.Val363Leu
ENST00000696628.1:c.1087G>T	ENSP00000512765.1:p.Val363Leu
ENST00000369550.10:c.1087G>T MANE Select	ENSP00000358563.5:p.Val363Leu
ENST00000369550.9:c.1087G>T	ENSP00000358563.5:p.Val363Leu
ENST00000412124.5:c.345G>T
ENST00000426673.5:c.447G>T
ENST00000475966.1:n.576G>T
ENST00000481062.1:n.38G>T
ENST00000620277.4:c.1087G>T	ENSP00000478387.1:p.Val363Leu
NM_001142463.2:c.1087G>T	NP_001135935.1:p.Val363Leu
NM_001288747.1:c.1087G>T	NP_001275676.1:p.Val363Leu
NM_001363.4:c.1087G>T	NP_001354.1:p.Val363Leu
NR_110021.1:n.1788G>T
NR_110022.1:n.1907G>T
NR_110023.1:n.1681G>T
NM_001363.5:c.1087G>T MANE Select	NP_001354.1:p.Val363Leu
NM_001142463.3:c.1087G>T	NP_001135935.1:p.Val363Leu
NR_110021.2:n.1666G>T
NR_110022.2:n.1785G>T
NR_110023.2:n.1559G>T
NM_001288747.2:c.1087G>T	NP_001275676.1:p.Val363Leu