Canonical Allele Identifier: CA2306909681
Gene: CCBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59437947T= , CM000680.2:g.59437947T= GRCh38
NC_000018.9:g.57105179T= , CM000680.1:g.57105179T= GRCh37
NC_000018.8:g.55256159T= NCBI36
NG_016990.1:g.264466A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000589419.2:n.990+164A=
ENST00000650467.2:c.765+164A= ENSP00000496897.2:n.765+164A=
ENST00000695903.1:c.*66+94A= ENSP00000512255.1:n.*66+94A=
ENST00000695904.1:c.1100+164A= ENSP00000512259.1:n.1100+164A=
ENST00000439986.9:c.987+164A= MANE Select ENSP00000404464.2:n.987+164A=
ENST00000589116.2:n.695+164A=
ENST00000649564.1:c.987+164A= ENSP00000497183.1:n.987+164A=
ENST00000650467.1:c.643+164A=
ENST00000398179.3:c.777+164A= ENSP00000381241.3:n.777+164A=
ENST00000439986.8:c.987+164A= ENSP00000404464.2:n.987+164A=
ENST00000589116.1:n.695+164A=
NM_133459.3:c.987+164A= NP_597716.1:n.987+164A=
XM_005266648.2:c.987+164A= XP_005266705.1:n.987+164A=
NM_133459.4:c.987+164A= MANE Select NP_597716.1:n.987+164A=
XM_017025556.1:c.1100+164A= XP_016881045.1:n.1100+164A=
XM_017025557.1:c.1100+164A= XP_016881046.1:n.1100+164A=
XM_017025558.1:c.1057+94A= XP_016881047.1:n.1057+94A=
XM_024451091.1:c.987+164A= XP_024306859.1:n.987+164A=
XR_001753142.1:n.2009+94A=