Canonical Allele Identifier: CA414891430

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997526G>A (hg19) ; chrX:g.154769251G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769251G>A , CM000685.2:g.154769251G>A	GRCh38
NC_000023.10:g.153997526G>A , CM000685.1:g.153997526G>A	GRCh37
NC_000023.9:g.153650720G>A	NCBI36
NG_009780.1:g.11496G>A , LRG_55:g.11496G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.736G>A	ENSP00000400542.2:p.Val246Ile
ENST00000426673.6:c.*239G>A	ENSP00000407253.3:n.*239G>A
ENST00000484317.6:n.641G>A
ENST00000696575.1:c.856G>A	ENSP00000512730.1:p.Val286Ile
ENST00000696576.1:n.958G>A
ENST00000696577.1:c.856G>A	ENSP00000512731.1:p.Val286Ile
ENST00000696578.1:c.856G>A	ENSP00000512732.1:p.Val286Ile
ENST00000696579.1:n.958G>A
ENST00000696580.1:c.769G>A	ENSP00000512733.1:p.Val257Ile
ENST00000696581.1:c.*830G>A	ENSP00000512734.1:n.*830G>A
ENST00000696582.1:c.*62G>A	ENSP00000512735.1:n.*62G>A
ENST00000696583.1:c.817G>A	ENSP00000512736.1:p.Val273Ile
ENST00000696584.1:n.1380G>A
ENST00000696585.1:n.1499G>A
ENST00000696586.1:n.1273G>A
ENST00000696587.1:c.736G>A	ENSP00000512737.1:p.Val246Ile
ENST00000696588.1:c.247G>A	ENSP00000513251.1:p.Val83Ile
ENST00000696589.1:n.631G>A
ENST00000696590.1:n.480G>A
ENST00000696591.1:n.205G>A
ENST00000696627.1:c.856G>A	ENSP00000512764.1:p.Val286Ile
ENST00000696628.1:c.856G>A	ENSP00000512765.1:p.Val286Ile
ENST00000369550.10:c.856G>A MANE Select	ENSP00000358563.5:p.Val286Ile
ENST00000369550.9:c.856G>A	ENSP00000358563.5:p.Val286Ile
ENST00000412124.5:c.174-1508G>A
ENST00000413910.5:c.736G>A	ENSP00000400542.1:p.Val246Ile
ENST00000426673.5:c.216G>A
ENST00000475966.1:n.345G>A
ENST00000484317.5:n.494G>A
ENST00000620277.4:c.856G>A	ENSP00000478387.1:p.Val286Ile
NM_001142463.2:c.856G>A	NP_001135935.1:p.Val286Ile
NM_001288747.1:c.856G>A	NP_001275676.1:p.Val286Ile
NM_001363.4:c.856G>A	NP_001354.1:p.Val286Ile
NR_110021.1:n.1557G>A
NR_110022.1:n.1676G>A
NR_110023.1:n.1450G>A
NM_001363.5:c.856G>A MANE Select	NP_001354.1:p.Val286Ile
NM_001142463.3:c.856G>A	NP_001135935.1:p.Val286Ile
NR_110021.2:n.1435G>A
NR_110022.2:n.1554G>A
NR_110023.2:n.1328G>A
NM_001288747.2:c.856G>A	NP_001275676.1:p.Val286Ile