Canonical Allele Identifier: CA301444096

Gene: CCBE1

Linked Data

• dbSNP Id: rs572647091
• gnomAD v2: 18-57314870-G-T
• gnomAD v3: 18-59647638-G-T
• gnomAD v4: 18-59647638-G-T
• MyVariant Identifiers: chr18:g.57314870G>T (hg19) ; chr18:g.59647638G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.59647638G>T , CM000680.2:g.59647638G>T	GRCh38
NC_000018.9:g.57314870G>T , CM000680.1:g.57314870G>T	GRCh37
NC_000018.8:g.55465850G>T	NCBI36
NG_016990.1:g.54775C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000589419.2:n.215+18438C>A
ENST00000650467.2:c.212+48991C>A	ENSP00000496897.2:n.212+48991C>A
ENST00000695903.1:c.212+48991C>A	ENSP00000512255.1:n.212+48991C>A
ENST00000695904.1:c.212+48991C>A	ENSP00000512259.1:n.212+48991C>A
ENST00000439986.9:c.212+48991C>A MANE Select	ENSP00000404464.2:n.212+48991C>A
ENST00000649564.1:c.212+48991C>A	ENSP00000497183.1:n.212+48991C>A
ENST00000650467.1:c.90+48991C>A
ENST00000439986.8:c.212+48991C>A	ENSP00000404464.2:n.212+48991C>A
ENST00000589419.1:c.-362+18438C>A	ENSP00000467710.1:n.-362+18438C>A
NM_133459.3:c.212+48991C>A	NP_597716.1:n.212+48991C>A
XM_005266648.2:c.212+48991C>A	XP_005266705.1:n.212+48991C>A
NM_133459.4:c.212+48991C>A MANE Select	NP_597716.1:n.212+48991C>A
XM_017025556.1:c.212+48991C>A	XP_016881045.1:n.212+48991C>A
XM_017025557.1:c.212+48991C>A	XP_016881046.1:n.212+48991C>A
XM_017025558.1:c.212+48991C>A	XP_016881047.1:n.212+48991C>A
XM_024451091.1:c.212+48991C>A	XP_024306859.1:n.212+48991C>A
XR_001753142.1:n.1051+48991C>A