Canonical Allele Identifier: CA990849940

Gene: CCBE1

Linked Data

• dbSNP Id: rs2054069309
• gnomAD v3: 18-59647397-T-G
• gnomAD v4: 18-59647397-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59647397T>G , CM000680.2:g.59647397T>G	GRCh38
NC_000018.9:g.57314629T>G , CM000680.1:g.57314629T>G	GRCh37
NC_000018.8:g.55465609T>G	NCBI36
NG_016990.1:g.55016A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000589419.2:n.215+18679A>C
ENST00000650467.2:c.212+49232A>C	ENSP00000496897.2:n.212+49232A>C
ENST00000695903.1:c.212+49232A>C	ENSP00000512255.1:n.212+49232A>C
ENST00000695904.1:c.212+49232A>C	ENSP00000512259.1:n.212+49232A>C
ENST00000439986.9:c.212+49232A>C MANE Select	ENSP00000404464.2:n.212+49232A>C
ENST00000649564.1:c.212+49232A>C	ENSP00000497183.1:n.212+49232A>C
ENST00000650467.1:c.90+49232A>C
ENST00000439986.8:c.212+49232A>C	ENSP00000404464.2:n.212+49232A>C
ENST00000589419.1:c.-362+18679A>C	ENSP00000467710.1:n.-362+18679A>C
NM_133459.3:c.212+49232A>C	NP_597716.1:n.212+49232A>C
XM_005266648.2:c.212+49232A>C	XP_005266705.1:n.212+49232A>C
NM_133459.4:c.212+49232A>C MANE Select	NP_597716.1:n.212+49232A>C
XM_017025556.1:c.212+49232A>C	XP_016881045.1:n.212+49232A>C
XM_017025557.1:c.212+49232A>C	XP_016881046.1:n.212+49232A>C
XM_017025558.1:c.212+49232A>C	XP_016881047.1:n.212+49232A>C
XM_024451091.1:c.212+49232A>C	XP_024306859.1:n.212+49232A>C
XR_001753142.1:n.1051+49232A>C