Canonical Allele Identifier: CA402592397
Gene: CCBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59469473C>T , CM000680.2:g.59469473C>T GRCh38
NC_000018.9:g.57136705C>T , CM000680.1:g.57136705C>T GRCh37
NC_000018.8:g.55287685C>T NCBI36
NG_016990.1:g.232940G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000589419.2:n.403G>A
ENST00000650467.2:c.400G>A ENSP00000496897.2:p.Asp134Asn
ENST00000695903.1:c.400G>A ENSP00000512255.1:p.Asp134Asn
ENST00000695904.1:c.400G>A ENSP00000512259.1:p.Asp134Asn
ENST00000439986.9:c.400G>A MANE Select ENSP00000404464.2:p.Asp134Asn
ENST00000649564.1:c.400G>A ENSP00000497183.1:p.Asp134Asn
ENST00000650467.1:c.278G>A
ENST00000398179.3:c.190G>A ENSP00000381241.3:p.Asp64Asn
ENST00000439986.8:c.400G>A ENSP00000404464.2:p.Asp134Asn
ENST00000589419.1:c.-174G>A ENSP00000467710.1:n.-174G>A
NM_133459.3:c.400G>A NP_597716.1:p.Asp134Asn
XM_005266648.2:c.400G>A XP_005266705.1:p.Asp134Asn
NM_133459.4:c.400G>A MANE Select NP_597716.1:p.Asp134Asn
XM_017025556.1:c.400G>A XP_016881045.1:p.Asp134Asn
XM_017025557.1:c.400G>A XP_016881046.1:p.Asp134Asn
XM_017025558.1:c.400G>A XP_016881047.1:p.Asp134Asn
XM_024451091.1:c.400G>A XP_024306859.1:p.Asp134Asn
XR_001753142.1:n.1239G>A