Canonical Allele Identifier: CA2466786360

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154770804C= , CM000685.2:g.154770804C=	GRCh38
NC_000023.10:g.153999079C= , CM000685.1:g.153999079C=	GRCh37
NC_000023.9:g.153652273C=	NCBI36
NG_009780.1:g.13049C= , LRG_55:g.13049C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.961C= MANE Select	NP_001354.1:p.Leu321=
ENST00000369550.10:c.961C= MANE Select	ENSP00000358563.5:p.Leu321=
NM_001142463.2:c.961C=	NP_001135935.1:p.Leu321=
NM_001142463.3:c.961C=	NP_001135935.1:p.Leu321=
NM_001288747.1:c.961C=	NP_001275676.1:p.Leu321=
NM_001288747.2:c.961C=	NP_001275676.1:p.Leu321=
NM_001363.4:c.961C=	NP_001354.1:p.Leu321=
NR_110021.1:n.1662C=
NR_110021.2:n.1540C=
NR_110022.1:n.1781C=
NR_110022.2:n.1659C=
NR_110023.1:n.1555C=
NR_110023.2:n.1433C=
ENST00000369550.9:c.961C=	ENSP00000358563.5:p.Leu321=
ENST00000412124.5:c.219C=
ENST00000413910.6:c.841C=	ENSP00000400542.2:p.Leu281=
ENST00000426673.5:c.321C=
ENST00000426673.6:c.*344C=	ENSP00000407253.3:n.*344C=
ENST00000475966.1:n.450C=
ENST00000484317.5:n.599C=
ENST00000484317.6:n.746C=
ENST00000620277.4:c.961C=	ENSP00000478387.1:p.Leu321=
ENST00000696575.1:c.961C=	ENSP00000512730.1:p.Leu321=
ENST00000696577.1:c.961C=	ENSP00000512731.1:p.Leu321=
ENST00000696578.1:c.915+1494C=	ENSP00000512732.1:n.915+1494C=
ENST00000696579.1:n.1063C=
ENST00000696580.1:c.874C=	ENSP00000512733.1:p.Leu292=
ENST00000696581.1:c.*935C=	ENSP00000512734.1:n.*935C=
ENST00000696582.1:c.*167C=	ENSP00000512735.1:n.*167C=
ENST00000696583.1:c.922C=	ENSP00000512736.1:p.Leu308=
ENST00000696584.1:n.1485C=
ENST00000696585.1:n.1604C=
ENST00000696586.1:n.1378C=
ENST00000696587.1:c.841C=	ENSP00000512737.1:p.Leu281=
ENST00000696588.1:c.352C=	ENSP00000513251.1:p.Leu118=
ENST00000696589.1:n.736C=
ENST00000696590.1:n.585C=
ENST00000696591.1:n.310C=
ENST00000696627.1:c.961C=	ENSP00000512764.1:p.Leu321=
ENST00000696628.1:c.961C=	ENSP00000512765.1:p.Leu321=