Canonical Allele Identifier: CA2306925604
Gene: CCBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59469471A= , CM000680.2:g.59469471A= GRCh38
NC_000018.9:g.57136703A= , CM000680.1:g.57136703A= GRCh37
NC_000018.8:g.55287683A= NCBI36
NG_016990.1:g.232942T=

Transcript Alleles

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