Canonical Allele Identifier: CA414888888

Gene: DKC1

Linked Data

• ClinVar Variation Id: 2664154
• ClinVar RCV Id: RCV003445289
• MyVariant Identifiers: chrX:g.153993748C>G (hg19) ; chrX:g.154765473C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765473C>G , CM000685.2:g.154765473C>G	GRCh38
NC_000023.10:g.153993748C>G , CM000685.1:g.153993748C>G	GRCh37
NC_000023.9:g.153646942C>G	NCBI36
NG_009780.1:g.7718C>G , LRG_55:g.7718C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000413910.6:c.114C>G	ENSP00000400542.2:p.Ile38Met
ENST00000426673.6:c.114C>G	ENSP00000407253.3:p.Ile38Met
ENST00000696575.1:c.114C>G	ENSP00000512730.1:p.Ile38Met
ENST00000696576.1:n.216C>G
ENST00000696577.1:c.114C>G	ENSP00000512731.1:p.Ile38Met
ENST00000696578.1:c.114C>G	ENSP00000512732.1:p.Ile38Met
ENST00000696579.1:n.216C>G
ENST00000696580.1:c.85-434C>G	ENSP00000512733.1:n.85-434C>G
ENST00000696581.1:c.*88C>G	ENSP00000512734.1:n.*88C>G
ENST00000696582.1:c.114C>G	ENSP00000512735.1:p.Ile38Met
ENST00000696583.1:c.114C>G	ENSP00000512736.1:p.Ile38Met
ENST00000696584.1:n.638C>G
ENST00000696585.1:n.161C>G
ENST00000696586.1:n.161C>G
ENST00000696587.1:c.114C>G	ENSP00000512737.1:p.Ile38Met
ENST00000696588.1:c.-496C>G	ENSP00000513251.1:n.-496C>G
ENST00000696627.1:c.114C>G	ENSP00000512764.1:p.Ile38Met
ENST00000696628.1:c.114C>G	ENSP00000512765.1:p.Ile38Met
ENST00000369550.10:c.114C>G MANE Select	ENSP00000358563.5:p.Ile38Met
ENST00000369550.9:c.114C>G	ENSP00000358563.5:p.Ile38Met
ENST00000413910.5:c.114C>G	ENSP00000400542.1:p.Ile38Met
ENST00000437719.5:c.70C>G
ENST00000452771.5:c.72C>G	ENSP00000407325.1:p.Ile24Met
ENST00000473552.1:n.167C>G
ENST00000620277.4:c.114C>G	ENSP00000478387.1:p.Ile38Met
NM_001142463.2:c.114C>G	NP_001135935.1:p.Ile38Met
NM_001288747.1:c.114C>G	NP_001275676.1:p.Ile38Met
NM_001363.4:c.114C>G	NP_001354.1:p.Ile38Met
NR_110021.1:n.815C>G
NR_110022.1:n.338C>G
NR_110023.1:n.338C>G
NM_001363.5:c.114C>G MANE Select	NP_001354.1:p.Ile38Met
NM_001142463.3:c.114C>G	NP_001135935.1:p.Ile38Met
NR_110021.2:n.693C>G
NR_110022.2:n.216C>G
NR_110023.2:n.216C>G
NM_001288747.2:c.114C>G	NP_001275676.1:p.Ile38Met