Canonical Allele Identifier: CA414890035

Gene: DKC1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154767035A>G , CM000685.2:g.154767035A>G	GRCh38
NC_000023.10:g.153995310A>G , CM000685.1:g.153995310A>G	GRCh37
NC_000023.9:g.153648504A>G	NCBI36
NG_009780.1:g.9280A>G , LRG_55:g.9280A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001363.5:c.487A>G MANE Select	NP_001354.1:p.Ile163Val
ENST00000369550.10:c.487A>G MANE Select	ENSP00000358563.5:p.Ile163Val
NM_001142463.2:c.487A>G	NP_001135935.1:p.Ile163Val
NM_001142463.3:c.487A>G	NP_001135935.1:p.Ile163Val
NM_001288747.1:c.487A>G	NP_001275676.1:p.Ile163Val
NM_001288747.2:c.487A>G	NP_001275676.1:p.Ile163Val
NM_001363.4:c.487A>G	NP_001354.1:p.Ile163Val
NR_110021.1:n.1188A>G
NR_110021.2:n.1066A>G
NR_110022.1:n.1307A>G
NR_110022.2:n.1185A>G
NR_110023.1:n.711A>G
NR_110023.2:n.589A>G
ENST00000369550.9:c.487A>G	ENSP00000358563.5:p.Ile163Val
ENST00000412124.5:c.20A>G
ENST00000413910.5:c.487A>G	ENSP00000400542.1:p.Ile163Val
ENST00000413910.6:c.487A>G	ENSP00000400542.2:p.Ile163Val
ENST00000426673.6:c.449-221A>G	ENSP00000407253.3:n.449-221A>G
ENST00000437719.5:c.443A>G
ENST00000452771.5:c.407-221A>G	ENSP00000407325.1:n.407-221A>G
ENST00000620277.4:c.487A>G	ENSP00000478387.1:p.Ile163Val
ENST00000696575.1:c.487A>G	ENSP00000512730.1:p.Ile163Val
ENST00000696576.1:n.589A>G
ENST00000696577.1:c.487A>G	ENSP00000512731.1:p.Ile163Val
ENST00000696578.1:c.487A>G	ENSP00000512732.1:p.Ile163Val
ENST00000696579.1:n.589A>G
ENST00000696580.1:c.400A>G	ENSP00000512733.1:p.Ile134Val
ENST00000696581.1:c.*461A>G	ENSP00000512734.1:n.*461A>G
ENST00000696582.1:c.487A>G	ENSP00000512735.1:p.Ile163Val
ENST00000696583.1:c.487A>G	ENSP00000512736.1:p.Ile163Val
ENST00000696584.1:n.1011A>G
ENST00000696585.1:n.1130A>G
ENST00000696586.1:n.534A>G
ENST00000696587.1:c.449-276A>G	ENSP00000512737.1:n.449-276A>G
ENST00000696588.1:c.-123A>G	ENSP00000513251.1:n.-123A>G
ENST00000696627.1:c.487A>G	ENSP00000512764.1:p.Ile163Val
ENST00000696628.1:c.487A>G	ENSP00000512765.1:p.Ile163Val