Canonical Allele Identifier: CA414891470

Gene: DKC1

Linked Data

• MyVariant Identifiers: chrX:g.153997532C>G (hg19) ; chrX:g.154769257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154769257C>G , CM000685.2:g.154769257C>G	GRCh38
NC_000023.10:g.153997532C>G , CM000685.1:g.153997532C>G	GRCh37
NC_000023.9:g.153650726C>G	NCBI36
NG_009780.1:g.11502C>G , LRG_55:g.11502C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.742C>G	ENSP00000400542.2:p.Pro248Ala
ENST00000426673.6:c.*245C>G	ENSP00000407253.3:n.*245C>G
ENST00000484317.6:n.647C>G
ENST00000696575.1:c.862C>G	ENSP00000512730.1:p.Pro288Ala
ENST00000696576.1:n.964C>G
ENST00000696577.1:c.862C>G	ENSP00000512731.1:p.Pro288Ala
ENST00000696578.1:c.862C>G	ENSP00000512732.1:p.Pro288Ala
ENST00000696579.1:n.964C>G
ENST00000696580.1:c.775C>G	ENSP00000512733.1:p.Pro259Ala
ENST00000696581.1:c.*836C>G	ENSP00000512734.1:n.*836C>G
ENST00000696582.1:c.*68C>G	ENSP00000512735.1:n.*68C>G
ENST00000696583.1:c.823C>G	ENSP00000512736.1:p.Pro275Ala
ENST00000696584.1:n.1386C>G
ENST00000696585.1:n.1505C>G
ENST00000696586.1:n.1279C>G
ENST00000696587.1:c.742C>G	ENSP00000512737.1:p.Pro248Ala
ENST00000696588.1:c.253C>G	ENSP00000513251.1:p.Pro85Ala
ENST00000696589.1:n.637C>G
ENST00000696590.1:n.486C>G
ENST00000696591.1:n.211C>G
ENST00000696627.1:c.862C>G	ENSP00000512764.1:p.Pro288Ala
ENST00000696628.1:c.862C>G	ENSP00000512765.1:p.Pro288Ala
ENST00000369550.10:c.862C>G MANE Select	ENSP00000358563.5:p.Pro288Ala
ENST00000369550.9:c.862C>G	ENSP00000358563.5:p.Pro288Ala
ENST00000412124.5:c.174-1502C>G
ENST00000413910.5:c.742C>G	ENSP00000400542.1:p.Pro248Ala
ENST00000426673.5:c.222C>G
ENST00000475966.1:n.351C>G
ENST00000484317.5:n.500C>G
ENST00000620277.4:c.862C>G	ENSP00000478387.1:p.Pro288Ala
NM_001142463.2:c.862C>G	NP_001135935.1:p.Pro288Ala
NM_001288747.1:c.862C>G	NP_001275676.1:p.Pro288Ala
NM_001363.4:c.862C>G	NP_001354.1:p.Pro288Ala
NR_110021.1:n.1563C>G
NR_110022.1:n.1682C>G
NR_110023.1:n.1456C>G
NM_001363.5:c.862C>G MANE Select	NP_001354.1:p.Pro288Ala
NM_001142463.3:c.862C>G	NP_001135935.1:p.Pro288Ala
NR_110021.2:n.1441C>G
NR_110022.2:n.1560C>G
NR_110023.2:n.1334C>G
NM_001288747.2:c.862C>G	NP_001275676.1:p.Pro288Ala