Canonical Allele Identifier: CA8980234

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438132C>T , CM000680.2:g.59438132C>T	GRCh38
NC_000018.9:g.57105364C>T , CM000680.1:g.57105364C>T	GRCh37
NC_000018.8:g.55256344C>T	NCBI36
NG_016990.1:g.264281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.969G>A
ENST00000650467.2:c.744G>A	ENSP00000496897.2:p.Ala248=
ENST00000695903.1:c.1079G>A	ENSP00000512255.1:p.Arg360His
ENST00000695904.1:c.1079G>A	ENSP00000512259.1:p.Arg360His
ENST00000439986.9:c.966G>A MANE Select	ENSP00000404464.2:p.Ala322=
ENST00000589116.2:n.674G>A
ENST00000649564.1:c.966G>A	ENSP00000497183.1:p.Ala322=
ENST00000650467.1:c.622G>A
ENST00000398179.3:c.756G>A	ENSP00000381241.3:p.Ala252=
ENST00000439986.8:c.966G>A	ENSP00000404464.2:p.Ala322=
ENST00000589116.1:n.674G>A
NM_133459.3:c.966G>A	NP_597716.1:p.Ala322=
XM_005266648.2:c.966G>A	XP_005266705.1:p.Ala322=
NM_133459.4:c.966G>A MANE Select	NP_597716.1:p.Ala322=
XM_017025556.1:c.1079G>A	XP_016881045.1:p.Arg360His
XM_017025557.1:c.1079G>A	XP_016881046.1:p.Arg360His
XM_017025558.1:c.966G>A	XP_016881047.1:p.Ala322=
XM_024451091.1:c.966G>A	XP_024306859.1:p.Ala322=
XR_001753142.1:n.1918G>A