Canonical Allele Identifier: CA343262

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154770792C>T , CM000685.2:g.154770792C>T	GRCh38
NC_000023.10:g.153999067C>T , CM000685.1:g.153999067C>T	GRCh37
NC_000023.9:g.153652261C>T	NCBI36
NG_009780.1:g.13037C>T , LRG_55:g.13037C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.949C>T MANE Select	NP_001354.1:p.Leu317Phe
ENST00000369550.10:c.949C>T MANE Select	ENSP00000358563.5:p.Leu317Phe
NM_001142463.2:c.949C>T	NP_001135935.1:p.Leu317Phe
NM_001142463.3:c.949C>T	NP_001135935.1:p.Leu317Phe
NM_001288747.1:c.949C>T	NP_001275676.1:p.Leu317Phe
NM_001288747.2:c.949C>T	NP_001275676.1:p.Leu317Phe
NM_001363.4:c.949C>T	NP_001354.1:p.Leu317Phe
NR_110021.1:n.1650C>T
NR_110021.2:n.1528C>T
NR_110022.1:n.1769C>T
NR_110022.2:n.1647C>T
NR_110023.1:n.1543C>T
NR_110023.2:n.1421C>T
ENST00000369550.9:c.949C>T	ENSP00000358563.5:p.Leu317Phe
ENST00000412124.5:c.207C>T
ENST00000413910.6:c.829C>T	ENSP00000400542.2:p.Leu277Phe
ENST00000426673.5:c.309C>T
ENST00000426673.6:c.*332C>T	ENSP00000407253.3:n.*332C>T
ENST00000475966.1:n.438C>T
ENST00000484317.5:n.587C>T
ENST00000484317.6:n.734C>T
ENST00000620277.4:c.949C>T	ENSP00000478387.1:p.Leu317Phe
ENST00000696575.1:c.949C>T	ENSP00000512730.1:p.Leu317Phe
ENST00000696577.1:c.949C>T	ENSP00000512731.1:p.Leu317Phe
ENST00000696578.1:c.915+1482C>T	ENSP00000512732.1:n.915+1482C>T
ENST00000696579.1:n.1051C>T
ENST00000696580.1:c.862C>T	ENSP00000512733.1:p.Leu288Phe
ENST00000696581.1:c.*923C>T	ENSP00000512734.1:n.*923C>T
ENST00000696582.1:c.*155C>T	ENSP00000512735.1:n.*155C>T
ENST00000696583.1:c.910C>T	ENSP00000512736.1:p.Leu304Phe
ENST00000696584.1:n.1473C>T
ENST00000696585.1:n.1592C>T
ENST00000696586.1:n.1366C>T
ENST00000696587.1:c.829C>T	ENSP00000512737.1:p.Leu277Phe
ENST00000696588.1:c.340C>T	ENSP00000513251.1:p.Leu114Phe
ENST00000696589.1:n.724C>T
ENST00000696590.1:n.573C>T
ENST00000696591.1:n.298C>T
ENST00000696627.1:c.949C>T	ENSP00000512764.1:p.Leu317Phe
ENST00000696628.1:c.949C>T	ENSP00000512765.1:p.Leu317Phe