Canonical Allele Identifier: CA2306909774

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438129A= , CM000680.2:g.59438129A=	GRCh38
NC_000018.9:g.57105361A= , CM000680.1:g.57105361A=	GRCh37
NC_000018.8:g.55256341A=	NCBI36
NG_016990.1:g.264284T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.972T=
ENST00000650467.2:c.747T=	ENSP00000496897.2:p.Pro249=
ENST00000695903.1:c.1082T=	ENSP00000512255.1:p.Leu361=
ENST00000695904.1:c.1082T=	ENSP00000512259.1:p.Leu361=
ENST00000439986.9:c.969T= MANE Select	ENSP00000404464.2:p.Pro323=
ENST00000589116.2:n.677T=
ENST00000649564.1:c.969T=	ENSP00000497183.1:p.Pro323=
ENST00000650467.1:c.625T=
ENST00000398179.3:c.759T=	ENSP00000381241.3:p.Pro253=
ENST00000439986.8:c.969T=	ENSP00000404464.2:p.Pro323=
ENST00000589116.1:n.677T=
NM_133459.3:c.969T=	NP_597716.1:p.Pro323=
XM_005266648.2:c.969T=	XP_005266705.1:p.Pro323=
NM_133459.4:c.969T= MANE Select	NP_597716.1:p.Pro323=
XM_017025556.1:c.1082T=	XP_016881045.1:p.Leu361=
XM_017025557.1:c.1082T=	XP_016881046.1:p.Leu361=
XM_017025558.1:c.969T=	XP_016881047.1:p.Pro323=
XM_024451091.1:c.969T=	XP_024306859.1:p.Pro323=
XR_001753142.1:n.1921T=