Canonical Allele Identifier: CA402594665

Gene: CCBE1

Linked Data

• gnomAD v4: 18-59438112-G-A
• MyVariant Identifiers: chr18:g.57105344G>A (hg19) ; chr18:g.59438112G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.989C>T
ENST00000650467.2:c.764C>T	ENSP00000496897.2:p.Pro255Leu
ENST00000695903.1:c.1099C>T	ENSP00000512255.1:p.Gln367Ter
ENST00000695904.1:c.1099C>T	ENSP00000512259.1:p.Gln367Ter
ENST00000439986.9:c.986C>T MANE Select	ENSP00000404464.2:p.Pro329Leu
ENST00000589116.2:n.694C>T
ENST00000649564.1:c.986C>T	ENSP00000497183.1:p.Pro329Leu
ENST00000650467.1:c.642C>T
ENST00000398179.3:c.776C>T	ENSP00000381241.3:p.Pro259Leu
ENST00000439986.8:c.986C>T	ENSP00000404464.2:p.Pro329Leu
ENST00000589116.1:n.694C>T
NM_133459.3:c.986C>T	NP_597716.1:p.Pro329Leu
XM_005266648.2:c.986C>T	XP_005266705.1:p.Pro329Leu
NM_133459.4:c.986C>T MANE Select	NP_597716.1:p.Pro329Leu
XM_017025556.1:c.1099C>T	XP_016881045.1:p.Gln367Ter
XM_017025557.1:c.1099C>T	XP_016881046.1:p.Gln367Ter
XM_017025558.1:c.986C>T	XP_016881047.1:p.Pro329Leu
XM_024451091.1:c.986C>T	XP_024306859.1:p.Pro329Leu
XR_001753142.1:n.1938C>T