Canonical Allele Identifier: CA402594703

Gene: CCBE1

Linked Data

• MyVariant Identifiers: chr18:g.57105353C>G (hg19) ; chr18:g.59438121C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438121C>G , CM000680.2:g.59438121C>G	GRCh38
NC_000018.9:g.57105353C>G , CM000680.1:g.57105353C>G	GRCh37
NC_000018.8:g.55256333C>G	NCBI36
NG_016990.1:g.264292G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.980G>C
ENST00000650467.2:c.755G>C	ENSP00000496897.2:p.Arg252Thr
ENST00000695903.1:c.1090G>C	ENSP00000512255.1:p.Glu364Gln
ENST00000695904.1:c.1090G>C	ENSP00000512259.1:p.Glu364Gln
ENST00000439986.9:c.977G>C MANE Select	ENSP00000404464.2:p.Arg326Thr
ENST00000589116.2:n.685G>C
ENST00000649564.1:c.977G>C	ENSP00000497183.1:p.Arg326Thr
ENST00000650467.1:c.633G>C
ENST00000398179.3:c.767G>C	ENSP00000381241.3:p.Arg256Thr
ENST00000439986.8:c.977G>C	ENSP00000404464.2:p.Arg326Thr
ENST00000589116.1:n.685G>C
NM_133459.3:c.977G>C	NP_597716.1:p.Arg326Thr
XM_005266648.2:c.977G>C	XP_005266705.1:p.Arg326Thr
NM_133459.4:c.977G>C MANE Select	NP_597716.1:p.Arg326Thr
XM_017025556.1:c.1090G>C	XP_016881045.1:p.Glu364Gln
XM_017025557.1:c.1090G>C	XP_016881046.1:p.Glu364Gln
XM_017025558.1:c.977G>C	XP_016881047.1:p.Arg326Thr
XM_024451091.1:c.977G>C	XP_024306859.1:p.Arg326Thr
XR_001753142.1:n.1929G>C