Canonical Allele Identifier: CA2306909740

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438057G= , CM000680.2:g.59438057G=	GRCh38
NC_000018.9:g.57105289G= , CM000680.1:g.57105289G=	GRCh37
NC_000018.8:g.55256269G=	NCBI36
NG_016990.1:g.264356C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+54C=
ENST00000650467.2:c.765+54C=	ENSP00000496897.2:n.765+54C=
ENST00000695903.1:c.*50C=	ENSP00000512255.1:n.*50C=
ENST00000695904.1:c.1100+54C=	ENSP00000512259.1:n.1100+54C=
ENST00000439986.9:c.987+54C= MANE Select	ENSP00000404464.2:n.987+54C=
ENST00000589116.2:n.695+54C=
ENST00000649564.1:c.987+54C=	ENSP00000497183.1:n.987+54C=
ENST00000650467.1:c.643+54C=
ENST00000398179.3:c.777+54C=	ENSP00000381241.3:n.777+54C=
ENST00000439986.8:c.987+54C=	ENSP00000404464.2:n.987+54C=
ENST00000589116.1:n.695+54C=
NM_133459.3:c.987+54C=	NP_597716.1:n.987+54C=
XM_005266648.2:c.987+54C=	XP_005266705.1:n.987+54C=
NM_133459.4:c.987+54C= MANE Select	NP_597716.1:n.987+54C=
XM_017025556.1:c.1100+54C=	XP_016881045.1:n.1100+54C=
XM_017025557.1:c.1100+54C=	XP_016881046.1:n.1100+54C=
XM_017025558.1:c.1041C=	XP_016881047.1:p.Ser347=
XM_024451091.1:c.987+54C=	XP_024306859.1:n.987+54C=
XR_001753142.1:n.1993C=