Canonical Allele Identifier: CA402594685

Gene: CCBE1

Linked Data

• MyVariant Identifiers: chr18:g.57105348A>T (hg19) ; chr18:g.59438116A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438116A>T , CM000680.2:g.59438116A>T	GRCh38
NC_000018.9:g.57105348A>T , CM000680.1:g.57105348A>T	GRCh37
NC_000018.8:g.55256328A>T	NCBI36
NG_016990.1:g.264297T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.985T>A
ENST00000650467.2:c.760T>A	ENSP00000496897.2:p.Ser254Thr
ENST00000695903.1:c.1095T>A	ENSP00000512255.1:p.Gly365=
ENST00000695904.1:c.1095T>A	ENSP00000512259.1:p.Gly365=
ENST00000439986.9:c.982T>A MANE Select	ENSP00000404464.2:p.Ser328Thr
ENST00000589116.2:n.690T>A
ENST00000649564.1:c.982T>A	ENSP00000497183.1:p.Ser328Thr
ENST00000650467.1:c.638T>A
ENST00000398179.3:c.772T>A	ENSP00000381241.3:p.Ser258Thr
ENST00000439986.8:c.982T>A	ENSP00000404464.2:p.Ser328Thr
ENST00000589116.1:n.690T>A
NM_133459.3:c.982T>A	NP_597716.1:p.Ser328Thr
XM_005266648.2:c.982T>A	XP_005266705.1:p.Ser328Thr
NM_133459.4:c.982T>A MANE Select	NP_597716.1:p.Ser328Thr
XM_017025556.1:c.1095T>A	XP_016881045.1:p.Gly365=
XM_017025557.1:c.1095T>A	XP_016881046.1:p.Gly365=
XM_017025558.1:c.982T>A	XP_016881047.1:p.Ser328Thr
XM_024451091.1:c.982T>A	XP_024306859.1:p.Ser328Thr
XR_001753142.1:n.1934T>A