Canonical Allele Identifier: CA402594742

Gene: CCBE1

Linked Data

• MyVariant Identifiers: chr18:g.57105363G>T (hg19) ; chr18:g.59438131G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438131G>T , CM000680.2:g.59438131G>T	GRCh38
NC_000018.9:g.57105363G>T , CM000680.1:g.57105363G>T	GRCh37
NC_000018.8:g.55256343G>T	NCBI36
NG_016990.1:g.264282C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.970C>A
ENST00000650467.2:c.745C>A	ENSP00000496897.2:p.Pro249Thr
ENST00000695903.1:c.1080C>A	ENSP00000512255.1:p.Arg360=
ENST00000695904.1:c.1080C>A	ENSP00000512259.1:p.Arg360=
ENST00000439986.9:c.967C>A MANE Select	ENSP00000404464.2:p.Pro323Thr
ENST00000589116.2:n.675C>A
ENST00000649564.1:c.967C>A	ENSP00000497183.1:p.Pro323Thr
ENST00000650467.1:c.623C>A
ENST00000398179.3:c.757C>A	ENSP00000381241.3:p.Pro253Thr
ENST00000439986.8:c.967C>A	ENSP00000404464.2:p.Pro323Thr
ENST00000589116.1:n.675C>A
NM_133459.3:c.967C>A	NP_597716.1:p.Pro323Thr
XM_005266648.2:c.967C>A	XP_005266705.1:p.Pro323Thr
NM_133459.4:c.967C>A MANE Select	NP_597716.1:p.Pro323Thr
XM_017025556.1:c.1080C>A	XP_016881045.1:p.Arg360=
XM_017025557.1:c.1080C>A	XP_016881046.1:p.Arg360=
XM_017025558.1:c.967C>A	XP_016881047.1:p.Pro323Thr
XM_024451091.1:c.967C>A	XP_024306859.1:p.Pro323Thr
XR_001753142.1:n.1919C>A