Canonical Allele Identifier: CA2642019446

Gene: CCBE1

Linked Data

• gnomAD v4: 18-59438084-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438084G>A , CM000680.2:g.59438084G>A	GRCh38
NC_000018.9:g.57105316G>A , CM000680.1:g.57105316G>A	GRCh37
NC_000018.8:g.55256296G>A	NCBI36
NG_016990.1:g.264329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+27C>T
ENST00000650467.2:c.765+27C>T	ENSP00000496897.2:n.765+27C>T
ENST00000695903.1:c.*23C>T	ENSP00000512255.1:n.*23C>T
ENST00000695904.1:c.1100+27C>T	ENSP00000512259.1:n.1100+27C>T
ENST00000439986.9:c.987+27C>T MANE Select	ENSP00000404464.2:n.987+27C>T
ENST00000589116.2:n.695+27C>T
ENST00000649564.1:c.987+27C>T	ENSP00000497183.1:n.987+27C>T
ENST00000650467.1:c.643+27C>T
ENST00000398179.3:c.777+27C>T	ENSP00000381241.3:n.777+27C>T
ENST00000439986.8:c.987+27C>T	ENSP00000404464.2:n.987+27C>T
ENST00000589116.1:n.695+27C>T
NM_133459.3:c.987+27C>T	NP_597716.1:n.987+27C>T
XM_005266648.2:c.987+27C>T	XP_005266705.1:n.987+27C>T
NM_133459.4:c.987+27C>T MANE Select	NP_597716.1:n.987+27C>T
XM_017025556.1:c.1100+27C>T	XP_016881045.1:n.1100+27C>T
XM_017025557.1:c.1100+27C>T	XP_016881046.1:n.1100+27C>T
XM_017025558.1:c.1014C>T	XP_016881047.1:p.Ser338=
XM_024451091.1:c.987+27C>T	XP_024306859.1:n.987+27C>T
XR_001753142.1:n.1966C>T