Canonical Allele Identifier: CA630094128

Gene: CCBE1

Linked Data

• dbSNP Id: rs1283854222
• gnomAD v2: 18-57105273-C-T
• gnomAD v3: 18-59438041-C-T
• gnomAD v4: 18-59438041-C-T
• MyVariant Identifiers: chr18:g.57105273C>T (hg19) ; chr18:g.59438041C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438041C>T , CM000680.2:g.59438041C>T	GRCh38
NC_000018.9:g.57105273C>T , CM000680.1:g.57105273C>T	GRCh37
NC_000018.8:g.55256253C>T	NCBI36
NG_016990.1:g.264372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+70G>A
ENST00000650467.2:c.765+70G>A	ENSP00000496897.2:n.765+70G>A
ENST00000695903.1:c.*66G>A	ENSP00000512255.1:n.*66G>A
ENST00000695904.1:c.1100+70G>A	ENSP00000512259.1:n.1100+70G>A
ENST00000439986.9:c.987+70G>A MANE Select	ENSP00000404464.2:n.987+70G>A
ENST00000589116.2:n.695+70G>A
ENST00000649564.1:c.987+70G>A	ENSP00000497183.1:n.987+70G>A
ENST00000650467.1:c.643+70G>A
ENST00000398179.3:c.777+70G>A	ENSP00000381241.3:n.777+70G>A
ENST00000439986.8:c.987+70G>A	ENSP00000404464.2:n.987+70G>A
ENST00000589116.1:n.695+70G>A
NM_133459.3:c.987+70G>A	NP_597716.1:n.987+70G>A
XM_005266648.2:c.987+70G>A	XP_005266705.1:n.987+70G>A
NM_133459.4:c.987+70G>A MANE Select	NP_597716.1:n.987+70G>A
XM_017025556.1:c.1100+70G>A	XP_016881045.1:n.1100+70G>A
XM_017025557.1:c.1100+70G>A	XP_016881046.1:n.1100+70G>A
XM_017025558.1:c.1057G>A	XP_016881047.1:p.Gly353Arg
XM_024451091.1:c.987+70G>A	XP_024306859.1:n.987+70G>A
XR_001753142.1:n.2009G>A