Canonical Allele Identifier: CA402592400

Gene: CCBE1

Linked Data

• MyVariant Identifiers: chr18:g.57136707A>C (hg19) ; chr18:g.59469475A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59469475A>C , CM000680.2:g.59469475A>C	GRCh38
NC_000018.9:g.57136707A>C , CM000680.1:g.57136707A>C	GRCh37
NC_000018.8:g.55287687A>C	NCBI36
NG_016990.1:g.232938T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.401T>G
ENST00000650467.2:c.398T>G	ENSP00000496897.2:p.Leu133Arg
ENST00000695903.1:c.398T>G	ENSP00000512255.1:p.Leu133Arg
ENST00000695904.1:c.398T>G	ENSP00000512259.1:p.Leu133Arg
ENST00000439986.9:c.398T>G MANE Select	ENSP00000404464.2:p.Leu133Arg
ENST00000649564.1:c.398T>G	ENSP00000497183.1:p.Leu133Arg
ENST00000650467.1:c.276T>G
ENST00000398179.3:c.188T>G	ENSP00000381241.3:p.Leu63Arg
ENST00000439986.8:c.398T>G	ENSP00000404464.2:p.Leu133Arg
ENST00000589419.1:c.-176T>G	ENSP00000467710.1:n.-176T>G
NM_133459.3:c.398T>G	NP_597716.1:p.Leu133Arg
XM_005266648.2:c.398T>G	XP_005266705.1:p.Leu133Arg
NM_133459.4:c.398T>G MANE Select	NP_597716.1:p.Leu133Arg
XM_017025556.1:c.398T>G	XP_016881045.1:p.Leu133Arg
XM_017025557.1:c.398T>G	XP_016881046.1:p.Leu133Arg
XM_017025558.1:c.398T>G	XP_016881047.1:p.Leu133Arg
XM_024451091.1:c.398T>G	XP_024306859.1:p.Leu133Arg
XR_001753142.1:n.1237T>G