Canonical Allele Identifier: CA1569444

Gene: CGREF1 KHK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27099556G>A , CM000664.2:g.27099556G>A	GRCh38
NC_000002.11:g.27322424G>A , CM000664.1:g.27322424G>A	GRCh37
NC_000002.10:g.27175928G>A	NCBI36
NG_012199.1:g.17814G>A
NG_012199.2:g.17814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000640154.2:c.775C>T (CGREF1)
ENST00000260599.11:c.790G>A (KHK)	ENSP00000260599.6:p.Val264Ile
ENST00000429697.2:c.925G>A (KHK)	ENSP00000404741.2:p.Val309Ile
ENST00000260598.10:c.790G>A (KHK) MANE Select	ENSP00000260598.5:p.Val264Ile
ENST00000260598.9:c.790G>A (KHK)	ENSP00000260598.5:p.Val264Ile
ENST00000260599.10:c.790G>A (KHK)	ENSP00000260599.6:p.Val264Ile
ENST00000402550.5:c.*228C>T (CGREF1)	ENSP00000385103.1:n.*228C>T
ENST00000440612.5:c.*591C>T (CGREF1)	ENSP00000394306.1:n.*591C>T
ENST00000464371.1:n.716G>A (KHK)
ENST00000490823.5:n.1138G>A (KHK)
NM_000221.2:c.790G>A (KHK)	NP_000212.1:p.Val264Ile
NM_001166240.1:c.*228C>T (CGREF1)	NP_001159712.1:n.*228C>T
NM_001301324.1:c.*305C>T (CGREF1)	NP_001288253.1:n.*305C>T
NM_006488.2:c.790G>A (KHK)	NP_006479.1:p.Val264Ile
XM_005264294.2:c.928G>A (KHK)	XP_005264351.1:p.Val310Ile
XM_005264296.2:c.793G>A (KHK)	XP_005264353.1:p.Val265Ile
XM_005264298.2:c.538G>A (KHK)	XP_005264355.1:p.Val180Ile
XM_005264294.4:c.928G>A (KHK)	XP_005264351.1:p.Val310Ile
XM_005264296.4:c.793G>A (KHK)	XP_005264353.1:p.Val265Ile
XM_005264298.4:c.538G>A (KHK)	XP_005264355.1:p.Val180Ile
XM_017004060.2:c.925G>A (KHK)	XP_016859549.1:p.Val309Ile
XM_017004061.2:c.655G>A (KHK)	XP_016859550.1:p.Val219Ile
NM_006488.3:c.790G>A (KHK) MANE Select	NP_006479.1:p.Val264Ile
NM_000221.3:c.790G>A (KHK)	NP_000212.1:p.Val264Ile
NM_001166240.2:c.*228C>T (CGREF1)	NP_001159712.1:n.*228C>T
NM_001301324.2:c.*305C>T (CGREF1)	NP_001288253.1:n.*305C>T