Canonical Allele Identifier: CA402592410

Gene: CCBE1

Linked Data

• dbSNP Id: rs1483000193
• gnomAD v3: 18-59469479-A-T
• gnomAD v4: 18-59469479-A-T
• MyVariant Identifiers: chr18:g.57136711A>T (hg19) ; chr18:g.59469479A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59469479A>T , CM000680.2:g.59469479A>T	GRCh38
NC_000018.9:g.57136711A>T , CM000680.1:g.57136711A>T	GRCh37
NC_000018.8:g.55287691A>T	NCBI36
NG_016990.1:g.232934T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.397T>A
ENST00000650467.2:c.394T>A	ENSP00000496897.2:p.Cys132Ser
ENST00000695903.1:c.394T>A	ENSP00000512255.1:p.Cys132Ser
ENST00000695904.1:c.394T>A	ENSP00000512259.1:p.Cys132Ser
ENST00000439986.9:c.394T>A MANE Select	ENSP00000404464.2:p.Cys132Ser
ENST00000649564.1:c.394T>A	ENSP00000497183.1:p.Cys132Ser
ENST00000650467.1:c.272T>A
ENST00000398179.3:c.184T>A	ENSP00000381241.3:p.Cys62Ser
ENST00000439986.8:c.394T>A	ENSP00000404464.2:p.Cys132Ser
ENST00000589419.1:c.-180T>A	ENSP00000467710.1:n.-180T>A
NM_133459.3:c.394T>A	NP_597716.1:p.Cys132Ser
XM_005266648.2:c.394T>A	XP_005266705.1:p.Cys132Ser
NM_133459.4:c.394T>A MANE Select	NP_597716.1:p.Cys132Ser
XM_017025556.1:c.394T>A	XP_016881045.1:p.Cys132Ser
XM_017025557.1:c.394T>A	XP_016881046.1:p.Cys132Ser
XM_017025558.1:c.394T>A	XP_016881047.1:p.Cys132Ser
XM_024451091.1:c.394T>A	XP_024306859.1:p.Cys132Ser
XR_001753142.1:n.1233T>A