Canonical Allele Identifier: CA2642019423

Gene: CCBE1

Linked Data

• gnomAD v4: 18-59438046-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438046G>C , CM000680.2:g.59438046G>C	GRCh38
NC_000018.9:g.57105278G>C , CM000680.1:g.57105278G>C	GRCh37
NC_000018.8:g.55256258G>C	NCBI36
NG_016990.1:g.264367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+65C>G
ENST00000650467.2:c.765+65C>G	ENSP00000496897.2:n.765+65C>G
ENST00000695903.1:c.*61C>G	ENSP00000512255.1:n.*61C>G
ENST00000695904.1:c.1100+65C>G	ENSP00000512259.1:n.1100+65C>G
ENST00000439986.9:c.987+65C>G MANE Select	ENSP00000404464.2:n.987+65C>G
ENST00000589116.2:n.695+65C>G
ENST00000649564.1:c.987+65C>G	ENSP00000497183.1:n.987+65C>G
ENST00000650467.1:c.643+65C>G
ENST00000398179.3:c.777+65C>G	ENSP00000381241.3:n.777+65C>G
ENST00000439986.8:c.987+65C>G	ENSP00000404464.2:n.987+65C>G
ENST00000589116.1:n.695+65C>G
NM_133459.3:c.987+65C>G	NP_597716.1:n.987+65C>G
XM_005266648.2:c.987+65C>G	XP_005266705.1:n.987+65C>G
NM_133459.4:c.987+65C>G MANE Select	NP_597716.1:n.987+65C>G
XM_017025556.1:c.1100+65C>G	XP_016881045.1:n.1100+65C>G
XM_017025557.1:c.1100+65C>G	XP_016881046.1:n.1100+65C>G
XM_017025558.1:c.1052C>G	XP_016881047.1:p.Pro351Arg
XM_024451091.1:c.987+65C>G	XP_024306859.1:n.987+65C>G
XR_001753142.1:n.2004C>G