Canonical Allele Identifier: CA8980230

Gene: CCBE1

Linked Data

• dbSNP Id: rs747697193
• ExAC: 18:57105335 C / T
• gnomAD v2: 18-57105335-C-T
• gnomAD v4: 18-59438103-C-T
• MyVariant Identifiers: chr18:g.57105335C>T (hg19) ; chr18:g.59438103C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438103C>T , CM000680.2:g.59438103C>T	GRCh38
NC_000018.9:g.57105335C>T , CM000680.1:g.57105335C>T	GRCh37
NC_000018.8:g.55256315C>T	NCBI36
NG_016990.1:g.264310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+8G>A
ENST00000650467.2:c.765+8G>A	ENSP00000496897.2:n.765+8G>A
ENST00000695903.1:c.*4G>A	ENSP00000512255.1:n.*4G>A
ENST00000695904.1:c.1100+8G>A	ENSP00000512259.1:n.1100+8G>A
ENST00000439986.9:c.987+8G>A MANE Select	ENSP00000404464.2:n.987+8G>A
ENST00000589116.2:n.695+8G>A
ENST00000649564.1:c.987+8G>A	ENSP00000497183.1:n.987+8G>A
ENST00000650467.1:c.643+8G>A
ENST00000398179.3:c.777+8G>A	ENSP00000381241.3:n.777+8G>A
ENST00000439986.8:c.987+8G>A	ENSP00000404464.2:n.987+8G>A
ENST00000589116.1:n.695+8G>A
NM_133459.3:c.987+8G>A	NP_597716.1:n.987+8G>A
XM_005266648.2:c.987+8G>A	XP_005266705.1:n.987+8G>A
NM_133459.4:c.987+8G>A MANE Select	NP_597716.1:n.987+8G>A
XM_017025556.1:c.1100+8G>A	XP_016881045.1:n.1100+8G>A
XM_017025557.1:c.1100+8G>A	XP_016881046.1:n.1100+8G>A
XM_017025558.1:c.995G>A	XP_016881047.1:p.Ser332Asn
XM_024451091.1:c.987+8G>A	XP_024306859.1:n.987+8G>A
XR_001753142.1:n.1947G>A