Canonical Allele Identifier: CA990808825

Gene: CCBE1

Linked Data

• dbSNP Id: rs1910240515
• gnomAD v3: 18-59438081-T-C
• gnomAD v4: 18-59438081-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438081T>C , CM000680.2:g.59438081T>C	GRCh38
NC_000018.9:g.57105313T>C , CM000680.1:g.57105313T>C	GRCh37
NC_000018.8:g.55256293T>C	NCBI36
NG_016990.1:g.264332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+30A>G
ENST00000650467.2:c.765+30A>G	ENSP00000496897.2:n.765+30A>G
ENST00000695903.1:c.*26A>G	ENSP00000512255.1:n.*26A>G
ENST00000695904.1:c.1100+30A>G	ENSP00000512259.1:n.1100+30A>G
ENST00000439986.9:c.987+30A>G MANE Select	ENSP00000404464.2:n.987+30A>G
ENST00000589116.2:n.695+30A>G
ENST00000649564.1:c.987+30A>G	ENSP00000497183.1:n.987+30A>G
ENST00000650467.1:c.643+30A>G
ENST00000398179.3:c.777+30A>G	ENSP00000381241.3:n.777+30A>G
ENST00000439986.8:c.987+30A>G	ENSP00000404464.2:n.987+30A>G
ENST00000589116.1:n.695+30A>G
NM_133459.3:c.987+30A>G	NP_597716.1:n.987+30A>G
XM_005266648.2:c.987+30A>G	XP_005266705.1:n.987+30A>G
NM_133459.4:c.987+30A>G MANE Select	NP_597716.1:n.987+30A>G
XM_017025556.1:c.1100+30A>G	XP_016881045.1:n.1100+30A>G
XM_017025557.1:c.1100+30A>G	XP_016881046.1:n.1100+30A>G
XM_017025558.1:c.1017A>G	XP_016881047.1:p.Pro339=
XM_024451091.1:c.987+30A>G	XP_024306859.1:n.987+30A>G
XR_001753142.1:n.1969A>G