Canonical Allele Identifier: CA402594759

Gene: CCBE1

Linked Data

• gnomAD v4: 18-59438136-C-T
• MyVariant Identifiers: chr18:g.57105368C>T (hg19) ; chr18:g.59438136C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438136C>T , CM000680.2:g.59438136C>T	GRCh38
NC_000018.9:g.57105368C>T , CM000680.1:g.57105368C>T	GRCh37
NC_000018.8:g.55256348C>T	NCBI36
NG_016990.1:g.264277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.965G>A
ENST00000650467.2:c.740G>A	ENSP00000496897.2:p.Gly247Glu
ENST00000695903.1:c.1075G>A	ENSP00000512255.1:p.Glu359Lys
ENST00000695904.1:c.1075G>A	ENSP00000512259.1:p.Glu359Lys
ENST00000439986.9:c.962G>A MANE Select	ENSP00000404464.2:p.Gly321Glu
ENST00000589116.2:n.670G>A
ENST00000649564.1:c.962G>A	ENSP00000497183.1:p.Gly321Glu
ENST00000650467.1:c.618G>A
ENST00000398179.3:c.752G>A	ENSP00000381241.3:p.Gly251Glu
ENST00000439986.8:c.962G>A	ENSP00000404464.2:p.Gly321Glu
ENST00000589116.1:n.670G>A
NM_133459.3:c.962G>A	NP_597716.1:p.Gly321Glu
XM_005266648.2:c.962G>A	XP_005266705.1:p.Gly321Glu
NM_133459.4:c.962G>A MANE Select	NP_597716.1:p.Gly321Glu
XM_017025556.1:c.1075G>A	XP_016881045.1:p.Glu359Lys
XM_017025557.1:c.1075G>A	XP_016881046.1:p.Glu359Lys
XM_017025558.1:c.962G>A	XP_016881047.1:p.Gly321Glu
XM_024451091.1:c.962G>A	XP_024306859.1:p.Gly321Glu
XR_001753142.1:n.1914G>A