Canonical Allele Identifier: CA8980318

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59439755G>A , CM000680.2:g.59439755G>A	GRCh38
NC_000018.9:g.57106987G>A , CM000680.1:g.57106987G>A	GRCh37
NC_000018.8:g.55257967G>A	NCBI36
NG_016990.1:g.262658C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.840C>T
ENST00000650467.2:c.615C>T	ENSP00000496897.2:p.Pro205=
ENST00000695903.1:c.950C>T	ENSP00000512255.1:p.Pro317Leu
ENST00000695904.1:c.950C>T	ENSP00000512259.1:p.Pro317Leu
ENST00000439986.9:c.837C>T MANE Select	ENSP00000404464.2:p.Pro279=
ENST00000589116.2:n.545C>T
ENST00000649564.1:c.837C>T	ENSP00000497183.1:p.Pro279=
ENST00000650467.1:c.493C>T
ENST00000398179.3:c.627C>T	ENSP00000381241.3:p.Pro209=
ENST00000439986.8:c.837C>T	ENSP00000404464.2:p.Pro279=
ENST00000589116.1:n.545C>T
NM_133459.3:c.837C>T	NP_597716.1:p.Pro279=
XM_005266648.2:c.837C>T	XP_005266705.1:p.Pro279=
NM_133459.4:c.837C>T MANE Select	NP_597716.1:p.Pro279=
XM_017025556.1:c.950C>T	XP_016881045.1:p.Pro317Leu
XM_017025557.1:c.950C>T	XP_016881046.1:p.Pro317Leu
XM_017025558.1:c.837C>T	XP_016881047.1:p.Pro279=
XM_024451091.1:c.837C>T	XP_024306859.1:p.Pro279=
XR_001753142.1:n.1789C>T