Canonical Allele Identifier: CA504064711

Gene: CCBE1

Linked Data

• dbSNP Id: rs1423597357
• gnomAD v2: 18-57136715-T-G
• gnomAD v4: 18-59469483-T-G
• MyVariant Identifiers: chr18:g.57136715T>G (hg19) ; chr18:g.59469483T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59469483T>G , CM000680.2:g.59469483T>G	GRCh38
NC_000018.9:g.57136715T>G , CM000680.1:g.57136715T>G	GRCh37
NC_000018.8:g.55287695T>G	NCBI36
NG_016990.1:g.232930A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.393A>C
ENST00000650467.2:c.390A>C	ENSP00000496897.2:p.Pro130=
ENST00000695903.1:c.390A>C	ENSP00000512255.1:p.Pro130=
ENST00000695904.1:c.390A>C	ENSP00000512259.1:p.Pro130=
ENST00000439986.9:c.390A>C MANE Select	ENSP00000404464.2:p.Pro130=
ENST00000649564.1:c.390A>C	ENSP00000497183.1:p.Pro130=
ENST00000650467.1:c.268A>C
ENST00000398179.3:c.180A>C	ENSP00000381241.3:p.Pro60=
ENST00000439986.8:c.390A>C	ENSP00000404464.2:p.Pro130=
ENST00000589419.1:c.-184A>C	ENSP00000467710.1:n.-184A>C
NM_133459.3:c.390A>C	NP_597716.1:p.Pro130=
XM_005266648.2:c.390A>C	XP_005266705.1:p.Pro130=
NM_133459.4:c.390A>C MANE Select	NP_597716.1:p.Pro130=
XM_017025556.1:c.390A>C	XP_016881045.1:p.Pro130=
XM_017025557.1:c.390A>C	XP_016881046.1:p.Pro130=
XM_017025558.1:c.390A>C	XP_016881047.1:p.Pro130=
XM_024451091.1:c.390A>C	XP_024306859.1:p.Pro130=
XR_001753142.1:n.1229A>C