Canonical Allele Identifier: CA2307017095
Gene: CCBE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59647424C= , CM000680.2:g.59647424C= GRCh38
NC_000018.9:g.57314656C= , CM000680.1:g.57314656C= GRCh37
NC_000018.8:g.55465636C= NCBI36
NG_016990.1:g.54989G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000589419.2:n.215+18652G=
ENST00000650467.2:c.212+49205G= ENSP00000496897.2:n.212+49205G=
ENST00000695903.1:c.212+49205G= ENSP00000512255.1:n.212+49205G=
ENST00000695904.1:c.212+49205G= ENSP00000512259.1:n.212+49205G=
ENST00000439986.9:c.212+49205G= MANE Select ENSP00000404464.2:n.212+49205G=
ENST00000649564.1:c.212+49205G= ENSP00000497183.1:n.212+49205G=
ENST00000650467.1:c.90+49205G=
ENST00000439986.8:c.212+49205G= ENSP00000404464.2:n.212+49205G=
ENST00000589419.1:c.-362+18652G= ENSP00000467710.1:n.-362+18652G=
NM_133459.3:c.212+49205G= NP_597716.1:n.212+49205G=
XM_005266648.2:c.212+49205G= XP_005266705.1:n.212+49205G=
NM_133459.4:c.212+49205G= MANE Select NP_597716.1:n.212+49205G=
XM_017025556.1:c.212+49205G= XP_016881045.1:n.212+49205G=
XM_017025557.1:c.212+49205G= XP_016881046.1:n.212+49205G=
XM_017025558.1:c.212+49205G= XP_016881047.1:n.212+49205G=
XM_024451091.1:c.212+49205G= XP_024306859.1:n.212+49205G=
XR_001753142.1:n.1051+49205G=