Canonical Allele Identifier: CA402594694
Gene: CCBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.57105351C>A (hg19) chr18:g.59438119C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59438119C>A , CM000680.2:g.59438119C>A GRCh38
NC_000018.9:g.57105351C>A , CM000680.1:g.57105351C>A GRCh37
NC_000018.8:g.55256331C>A NCBI36
NG_016990.1:g.264294G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000589419.2:n.982G>T
ENST00000650467.2:c.757G>T ENSP00000496897.2:p.Gly253Trp
ENST00000695903.1:c.1092G>T ENSP00000512255.1:p.Glu364Asp
ENST00000695904.1:c.1092G>T ENSP00000512259.1:p.Glu364Asp
ENST00000439986.9:c.979G>T MANE Select ENSP00000404464.2:p.Gly327Trp
ENST00000589116.2:n.687G>T
ENST00000649564.1:c.979G>T ENSP00000497183.1:p.Gly327Trp
ENST00000650467.1:c.635G>T
ENST00000398179.3:c.769G>T ENSP00000381241.3:p.Gly257Trp
ENST00000439986.8:c.979G>T ENSP00000404464.2:p.Gly327Trp
ENST00000589116.1:n.687G>T
NM_133459.3:c.979G>T NP_597716.1:p.Gly327Trp
XM_005266648.2:c.979G>T XP_005266705.1:p.Gly327Trp
NM_133459.4:c.979G>T MANE Select NP_597716.1:p.Gly327Trp
XM_017025556.1:c.1092G>T XP_016881045.1:p.Glu364Asp
XM_017025557.1:c.1092G>T XP_016881046.1:p.Glu364Asp
XM_017025558.1:c.979G>T XP_016881047.1:p.Gly327Trp
XM_024451091.1:c.979G>T XP_024306859.1:p.Gly327Trp
XR_001753142.1:n.1931G>T
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