Canonical Allele Identifier: CA402594663

Gene: CCBE1

Linked Data

• MyVariant Identifiers: chr18:g.57105344G>T (hg19) ; chr18:g.59438112G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59438112G>T , CM000680.2:g.59438112G>T	GRCh38
NC_000018.9:g.57105344G>T , CM000680.1:g.57105344G>T	GRCh37
NC_000018.8:g.55256324G>T	NCBI36
NG_016990.1:g.264301C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.989C>A
ENST00000650467.2:c.764C>A	ENSP00000496897.2:p.Pro255Gln
ENST00000695903.1:c.1099C>A	ENSP00000512255.1:p.Gln367Lys
ENST00000695904.1:c.1099C>A	ENSP00000512259.1:p.Gln367Lys
ENST00000439986.9:c.986C>A MANE Select	ENSP00000404464.2:p.Pro329Gln
ENST00000589116.2:n.694C>A
ENST00000649564.1:c.986C>A	ENSP00000497183.1:p.Pro329Gln
ENST00000650467.1:c.642C>A
ENST00000398179.3:c.776C>A	ENSP00000381241.3:p.Pro259Gln
ENST00000439986.8:c.986C>A	ENSP00000404464.2:p.Pro329Gln
ENST00000589116.1:n.694C>A
NM_133459.3:c.986C>A	NP_597716.1:p.Pro329Gln
XM_005266648.2:c.986C>A	XP_005266705.1:p.Pro329Gln
NM_133459.4:c.986C>A MANE Select	NP_597716.1:p.Pro329Gln
XM_017025556.1:c.1099C>A	XP_016881045.1:p.Gln367Lys
XM_017025557.1:c.1099C>A	XP_016881046.1:p.Gln367Lys
XM_017025558.1:c.986C>A	XP_016881047.1:p.Pro329Gln
XM_024451091.1:c.986C>A	XP_024306859.1:p.Pro329Gln
XR_001753142.1:n.1938C>A