Canonical Allele Identifier: CA402594699

Gene: CCBE1

Linked Data

• MyVariant Identifiers: chr18:g.57105352T>G (hg19) ; chr18:g.59438120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438120T>G , CM000680.2:g.59438120T>G	GRCh38
NC_000018.9:g.57105352T>G , CM000680.1:g.57105352T>G	GRCh37
NC_000018.8:g.55256332T>G	NCBI36
NG_016990.1:g.264293A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.981A>C
ENST00000650467.2:c.756A>C	ENSP00000496897.2:p.Arg252Ser
ENST00000695903.1:c.1091A>C	ENSP00000512255.1:p.Glu364Ala
ENST00000695904.1:c.1091A>C	ENSP00000512259.1:p.Glu364Ala
ENST00000439986.9:c.978A>C MANE Select	ENSP00000404464.2:p.Arg326Ser
ENST00000589116.2:n.686A>C
ENST00000649564.1:c.978A>C	ENSP00000497183.1:p.Arg326Ser
ENST00000650467.1:c.634A>C
ENST00000398179.3:c.768A>C	ENSP00000381241.3:p.Arg256Ser
ENST00000439986.8:c.978A>C	ENSP00000404464.2:p.Arg326Ser
ENST00000589116.1:n.686A>C
NM_133459.3:c.978A>C	NP_597716.1:p.Arg326Ser
XM_005266648.2:c.978A>C	XP_005266705.1:p.Arg326Ser
NM_133459.4:c.978A>C MANE Select	NP_597716.1:p.Arg326Ser
XM_017025556.1:c.1091A>C	XP_016881045.1:p.Glu364Ala
XM_017025557.1:c.1091A>C	XP_016881046.1:p.Glu364Ala
XM_017025558.1:c.978A>C	XP_016881047.1:p.Arg326Ser
XM_024451091.1:c.978A>C	XP_024306859.1:p.Arg326Ser
XR_001753142.1:n.1930A>C