Canonical Allele Identifier: CA2575894286

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777543G>T , CM000678.2:g.3777543G>T	GRCh38
NC_000016.9:g.3827544G>T , CM000678.1:g.3827544G>T	GRCh37
NC_000016.8:g.3767545G>T	NCBI36
NG_009873.1:g.107578C>A
NG_009873.2:g.108171C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2158+70C>A MANE Select	ENSP00000262367.5:n.2158+70C>A
ENST00000262367.9:c.2158+70C>A	ENSP00000262367.5:n.2158+70C>A
ENST00000382070.7:c.2044+70C>A	ENSP00000371502.3:n.2044+70C>A
ENST00000570939.2:c.763+70C>A	ENSP00000461002.2:n.763+70C>A
ENST00000571826.5:c.207+70C>A
ENST00000572134.1:c.426+468C>A
NM_001079846.1:c.2044+70C>A	NP_001073315.1:n.2044+70C>A
NM_004380.2:c.2158+70C>A	NP_004371.2:n.2158+70C>A
XM_005255124.3:c.2113+468C>A	XP_005255181.1:n.2113+468C>A
XM_005255125.3:c.2158+70C>A	XP_005255182.1:n.2158+70C>A
XM_006720848.2:c.2158+70C>A	XP_006720911.1:n.2158+70C>A
XM_011522380.1:c.2104+70C>A	XP_011520682.1:n.2104+70C>A
XM_011522381.1:c.1405+70C>A	XP_011520683.1:n.1405+70C>A
XM_011522382.1:c.2158+70C>A	XP_011520684.1:n.2158+70C>A
XM_005255124.4:c.2113+468C>A	XP_005255181.1:n.2113+468C>A
XM_005255125.4:c.2158+70C>A	XP_005255182.1:n.2158+70C>A
XM_006720848.3:c.2158+70C>A	XP_006720911.1:n.2158+70C>A
XM_011522381.2:c.1405+70C>A	XP_011520683.1:n.1405+70C>A
XM_011522382.3:c.2158+70C>A	XP_011520684.1:n.2158+70C>A
XM_017022944.1:c.2158+70C>A	XP_016878433.1:n.2158+70C>A
NM_004380.3:c.2158+70C>A MANE Select	NP_004371.2:n.2158+70C>A