Canonical Allele Identifier: CA2307017088

Gene: CCBE1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59647401C= , CM000680.2:g.59647401C=	GRCh38
NC_000018.9:g.57314633C= , CM000680.1:g.57314633C=	GRCh37
NC_000018.8:g.55465613C=	NCBI36
NG_016990.1:g.55012G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.215+18675G=
ENST00000650467.2:c.212+49228G=	ENSP00000496897.2:n.212+49228G=
ENST00000695903.1:c.212+49228G=	ENSP00000512255.1:n.212+49228G=
ENST00000695904.1:c.212+49228G=	ENSP00000512259.1:n.212+49228G=
ENST00000439986.9:c.212+49228G= MANE Select	ENSP00000404464.2:n.212+49228G=
ENST00000649564.1:c.212+49228G=	ENSP00000497183.1:n.212+49228G=
ENST00000650467.1:c.90+49228G=
ENST00000439986.8:c.212+49228G=	ENSP00000404464.2:n.212+49228G=
ENST00000589419.1:c.-362+18675G=	ENSP00000467710.1:n.-362+18675G=
NM_133459.3:c.212+49228G=	NP_597716.1:n.212+49228G=
XM_005266648.2:c.212+49228G=	XP_005266705.1:n.212+49228G=
NM_133459.4:c.212+49228G= MANE Select	NP_597716.1:n.212+49228G=
XM_017025556.1:c.212+49228G=	XP_016881045.1:n.212+49228G=
XM_017025557.1:c.212+49228G=	XP_016881046.1:n.212+49228G=
XM_017025558.1:c.212+49228G=	XP_016881047.1:n.212+49228G=
XM_024451091.1:c.212+49228G=	XP_024306859.1:n.212+49228G=
XR_001753142.1:n.1051+49228G=