Canonical Allele Identifier: CA414891147

Gene: DKC1

Linked Data

• COSMIC: COSM1118152
• MyVariant Identifiers: chrX:g.153997467T>C (hg19) ; chrX:g.154769192T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769192T>C , CM000685.2:g.154769192T>C	GRCh38
NC_000023.10:g.153997467T>C , CM000685.1:g.153997467T>C	GRCh37
NC_000023.9:g.153650661T>C	NCBI36
NG_009780.1:g.11437T>C , LRG_55:g.11437T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.677T>C	ENSP00000400542.2:p.Val226Ala
ENST00000426673.6:c.*180T>C	ENSP00000407253.3:n.*180T>C
ENST00000484317.6:n.582T>C
ENST00000696575.1:c.797T>C	ENSP00000512730.1:p.Val266Ala
ENST00000696576.1:n.899T>C
ENST00000696577.1:c.797T>C	ENSP00000512731.1:p.Val266Ala
ENST00000696578.1:c.797T>C	ENSP00000512732.1:p.Val266Ala
ENST00000696579.1:n.899T>C
ENST00000696580.1:c.710T>C	ENSP00000512733.1:p.Val237Ala
ENST00000696581.1:c.*771T>C	ENSP00000512734.1:n.*771T>C
ENST00000696582.1:c.*3T>C	ENSP00000512735.1:n.*3T>C
ENST00000696583.1:c.772-14T>C	ENSP00000512736.1:n.772-14T>C
ENST00000696584.1:n.1321T>C
ENST00000696585.1:n.1440T>C
ENST00000696586.1:n.1214T>C
ENST00000696587.1:c.677T>C	ENSP00000512737.1:p.Val226Ala
ENST00000696588.1:c.188T>C	ENSP00000513251.1:p.Val63Ala
ENST00000696589.1:n.572T>C
ENST00000696590.1:n.421T>C
ENST00000696591.1:n.146T>C
ENST00000696627.1:c.797T>C	ENSP00000512764.1:p.Val266Ala
ENST00000696628.1:c.797T>C	ENSP00000512765.1:p.Val266Ala
ENST00000369550.10:c.797T>C MANE Select	ENSP00000358563.5:p.Val266Ala
ENST00000369550.9:c.797T>C	ENSP00000358563.5:p.Val266Ala
ENST00000412124.5:c.174-1567T>C
ENST00000413910.5:c.677T>C	ENSP00000400542.1:p.Val226Ala
ENST00000426673.5:c.157T>C
ENST00000452771.5:c.690T>C	ENSP00000407325.1:n.690T>C
ENST00000475966.1:n.286T>C
ENST00000484317.5:n.435T>C
ENST00000620277.4:c.797T>C	ENSP00000478387.1:p.Val266Ala
NM_001142463.2:c.797T>C	NP_001135935.1:p.Val266Ala
NM_001288747.1:c.797T>C	NP_001275676.1:p.Val266Ala
NM_001363.4:c.797T>C	NP_001354.1:p.Val266Ala
NR_110021.1:n.1498T>C
NR_110022.1:n.1617T>C
NR_110023.1:n.1391T>C
NM_001363.5:c.797T>C MANE Select	NP_001354.1:p.Val266Ala
NM_001142463.3:c.797T>C	NP_001135935.1:p.Val266Ala
NR_110021.2:n.1376T>C
NR_110022.2:n.1495T>C
NR_110023.2:n.1269T>C
NM_001288747.2:c.797T>C	NP_001275676.1:p.Val266Ala