Canonical Allele Identifier: CA402592500

Gene: CCBE1

Linked Data

• ClinVar Variation Id: 2216865
• ClinVar RCV Id: RCV002682609
• gnomAD v4: 18-59469526-C-A
• MyVariant Identifiers: chr18:g.57136758C>A (hg19) ; chr18:g.59469526C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59469526C>A , CM000680.2:g.59469526C>A	GRCh38
NC_000018.9:g.57136758C>A , CM000680.1:g.57136758C>A	GRCh37
NC_000018.8:g.55287738C>A	NCBI36
NG_016990.1:g.232887G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.350G>T
ENST00000650467.2:c.347G>T	ENSP00000496897.2:p.Gly116Val
ENST00000695903.1:c.347G>T	ENSP00000512255.1:p.Gly116Val
ENST00000695904.1:c.347G>T	ENSP00000512259.1:p.Gly116Val
ENST00000439986.9:c.347G>T MANE Select	ENSP00000404464.2:p.Gly116Val
ENST00000649564.1:c.347G>T	ENSP00000497183.1:p.Gly116Val
ENST00000650467.1:c.225G>T
ENST00000398179.3:c.137G>T	ENSP00000381241.3:p.Gly46Val
ENST00000439986.8:c.347G>T	ENSP00000404464.2:p.Gly116Val
ENST00000589419.1:c.-227G>T	ENSP00000467710.1:n.-227G>T
NM_133459.3:c.347G>T	NP_597716.1:p.Gly116Val
XM_005266648.2:c.347G>T	XP_005266705.1:p.Gly116Val
NM_133459.4:c.347G>T MANE Select	NP_597716.1:p.Gly116Val
XM_017025556.1:c.347G>T	XP_016881045.1:p.Gly116Val
XM_017025557.1:c.347G>T	XP_016881046.1:p.Gly116Val
XM_017025558.1:c.347G>T	XP_016881047.1:p.Gly116Val
XM_024451091.1:c.347G>T	XP_024306859.1:p.Gly116Val
XR_001753142.1:n.1186G>T