Canonical Allele Identifier: CA8980224

Gene: CCBE1

Linked Data

• dbSNP Id: rs370344440
• ExAC: 18:57105310 C / G
• gnomAD v2: 18-57105310-C-G
• gnomAD v4: 18-59438078-C-G
• MyVariant Identifiers: chr18:g.57105310C>G (hg19) ; chr18:g.59438078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438078C>G , CM000680.2:g.59438078C>G	GRCh38
NC_000018.9:g.57105310C>G , CM000680.1:g.57105310C>G	GRCh37
NC_000018.8:g.55256290C>G	NCBI36
NG_016990.1:g.264335G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+33G>C
ENST00000650467.2:c.765+33G>C	ENSP00000496897.2:n.765+33G>C
ENST00000695903.1:c.*29G>C	ENSP00000512255.1:n.*29G>C
ENST00000695904.1:c.1100+33G>C	ENSP00000512259.1:n.1100+33G>C
ENST00000439986.9:c.987+33G>C MANE Select	ENSP00000404464.2:n.987+33G>C
ENST00000589116.2:n.695+33G>C
ENST00000649564.1:c.987+33G>C	ENSP00000497183.1:n.987+33G>C
ENST00000650467.1:c.643+33G>C
ENST00000398179.3:c.777+33G>C	ENSP00000381241.3:n.777+33G>C
ENST00000439986.8:c.987+33G>C	ENSP00000404464.2:n.987+33G>C
ENST00000589116.1:n.695+33G>C
NM_133459.3:c.987+33G>C	NP_597716.1:n.987+33G>C
XM_005266648.2:c.987+33G>C	XP_005266705.1:n.987+33G>C
NM_133459.4:c.987+33G>C MANE Select	NP_597716.1:n.987+33G>C
XM_017025556.1:c.1100+33G>C	XP_016881045.1:n.1100+33G>C
XM_017025557.1:c.1100+33G>C	XP_016881046.1:n.1100+33G>C
XM_017025558.1:c.1020G>C	XP_016881047.1:p.Gly340=
XM_024451091.1:c.987+33G>C	XP_024306859.1:n.987+33G>C
XR_001753142.1:n.1972G>C