Canonical Allele Identifier: CA301039083

Gene: CCBE1

Linked Data

• dbSNP Id: rs919950313
• gnomAD v3: 18-59438051-A-T
• gnomAD v4: 18-59438051-A-T
• MyVariant Identifiers: chr18:g.57105283A>T (hg19) ; chr18:g.59438051A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438051A>T , CM000680.2:g.59438051A>T	GRCh38
NC_000018.9:g.57105283A>T , CM000680.1:g.57105283A>T	GRCh37
NC_000018.8:g.55256263A>T	NCBI36
NG_016990.1:g.264362T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+60T>A
ENST00000650467.2:c.765+60T>A	ENSP00000496897.2:n.765+60T>A
ENST00000695903.1:c.*56T>A	ENSP00000512255.1:n.*56T>A
ENST00000695904.1:c.1100+60T>A	ENSP00000512259.1:n.1100+60T>A
ENST00000439986.9:c.987+60T>A MANE Select	ENSP00000404464.2:n.987+60T>A
ENST00000589116.2:n.695+60T>A
ENST00000649564.1:c.987+60T>A	ENSP00000497183.1:n.987+60T>A
ENST00000650467.1:c.643+60T>A
ENST00000398179.3:c.777+60T>A	ENSP00000381241.3:n.777+60T>A
ENST00000439986.8:c.987+60T>A	ENSP00000404464.2:n.987+60T>A
ENST00000589116.1:n.695+60T>A
NM_133459.3:c.987+60T>A	NP_597716.1:n.987+60T>A
XM_005266648.2:c.987+60T>A	XP_005266705.1:n.987+60T>A
NM_133459.4:c.987+60T>A MANE Select	NP_597716.1:n.987+60T>A
XM_017025556.1:c.1100+60T>A	XP_016881045.1:n.1100+60T>A
XM_017025557.1:c.1100+60T>A	XP_016881046.1:n.1100+60T>A
XM_017025558.1:c.1047T>A	XP_016881047.1:p.Asp349Glu
XM_024451091.1:c.987+60T>A	XP_024306859.1:n.987+60T>A
XR_001753142.1:n.1999T>A