Canonical Allele Identifier: CA402594656

Gene: CCBE1

Linked Data

• MyVariant Identifiers: chr18:g.57105342C>A (hg19) ; chr18:g.59438110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438110C>A , CM000680.2:g.59438110C>A	GRCh38
NC_000018.9:g.57105342C>A , CM000680.1:g.57105342C>A	GRCh37
NC_000018.8:g.55256322C>A	NCBI36
NG_016990.1:g.264303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.990+1G>T
ENST00000650467.2:c.765+1G>T	ENSP00000496897.2:n.765+1G>T
ENST00000695903.1:c.1101G>T	ENSP00000512255.1:p.Gln367His
ENST00000695904.1:c.1100+1G>T	ENSP00000512259.1:n.1100+1G>T
ENST00000439986.9:c.987+1G>T MANE Select	ENSP00000404464.2:n.987+1G>T
ENST00000589116.2:n.695+1G>T
ENST00000649564.1:c.987+1G>T	ENSP00000497183.1:n.987+1G>T
ENST00000650467.1:c.643+1G>T
ENST00000398179.3:c.777+1G>T	ENSP00000381241.3:n.777+1G>T
ENST00000439986.8:c.987+1G>T	ENSP00000404464.2:n.987+1G>T
ENST00000589116.1:n.695+1G>T
NM_133459.3:c.987+1G>T	NP_597716.1:n.987+1G>T
XM_005266648.2:c.987+1G>T	XP_005266705.1:n.987+1G>T
NM_133459.4:c.987+1G>T MANE Select	NP_597716.1:n.987+1G>T
XM_017025556.1:c.1100+1G>T	XP_016881045.1:n.1100+1G>T
XM_017025557.1:c.1100+1G>T	XP_016881046.1:n.1100+1G>T
XM_017025558.1:c.988G>T	XP_016881047.1:p.Val330Leu
XM_024451091.1:c.987+1G>T	XP_024306859.1:n.987+1G>T
XR_001753142.1:n.1940G>T