Canonical Allele Identifier: CA504062893

Gene: CCBE1

Linked Data

• MyVariant Identifiers: chr18:g.57105364C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438132C>A , CM000680.2:g.59438132C>A	GRCh38
NC_000018.9:g.57105364C>A , CM000680.1:g.57105364C>A	GRCh37
NC_000018.8:g.55256344C>A	NCBI36
NG_016990.1:g.264281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.969G>T
ENST00000650467.2:c.744G>T	ENSP00000496897.2:p.Ala248=
ENST00000695903.1:c.1079G>T	ENSP00000512255.1:p.Arg360Leu
ENST00000695904.1:c.1079G>T	ENSP00000512259.1:p.Arg360Leu
ENST00000439986.9:c.966G>T MANE Select	ENSP00000404464.2:p.Ala322=
ENST00000589116.2:n.674G>T
ENST00000649564.1:c.966G>T	ENSP00000497183.1:p.Ala322=
ENST00000650467.1:c.622G>T
ENST00000398179.3:c.756G>T	ENSP00000381241.3:p.Ala252=
ENST00000439986.8:c.966G>T	ENSP00000404464.2:p.Ala322=
ENST00000589116.1:n.674G>T
NM_133459.3:c.966G>T	NP_597716.1:p.Ala322=
XM_005266648.2:c.966G>T	XP_005266705.1:p.Ala322=
NM_133459.4:c.966G>T MANE Select	NP_597716.1:p.Ala322=
XM_017025556.1:c.1079G>T	XP_016881045.1:p.Arg360Leu
XM_017025557.1:c.1079G>T	XP_016881046.1:p.Arg360Leu
XM_017025558.1:c.966G>T	XP_016881047.1:p.Ala322=
XM_024451091.1:c.966G>T	XP_024306859.1:p.Ala322=
XR_001753142.1:n.1918G>T