Canonical Allele Identifier: CA2631426681

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3777549-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777549A>T , CM000678.2:g.3777549A>T	GRCh38
NC_000016.9:g.3827550A>T , CM000678.1:g.3827550A>T	GRCh37
NC_000016.8:g.3767551A>T	NCBI36
NG_009873.1:g.107572T>A
NG_009873.2:g.108165T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2158+64T>A MANE Select	ENSP00000262367.5:n.2158+64T>A
ENST00000262367.9:c.2158+64T>A	ENSP00000262367.5:n.2158+64T>A
ENST00000382070.7:c.2044+64T>A	ENSP00000371502.3:n.2044+64T>A
ENST00000570939.2:c.763+64T>A	ENSP00000461002.2:n.763+64T>A
ENST00000571826.5:c.207+64T>A
ENST00000572134.1:c.426+462T>A
NM_001079846.1:c.2044+64T>A	NP_001073315.1:n.2044+64T>A
NM_004380.2:c.2158+64T>A	NP_004371.2:n.2158+64T>A
XM_005255124.3:c.2113+462T>A	XP_005255181.1:n.2113+462T>A
XM_005255125.3:c.2158+64T>A	XP_005255182.1:n.2158+64T>A
XM_006720848.2:c.2158+64T>A	XP_006720911.1:n.2158+64T>A
XM_011522380.1:c.2104+64T>A	XP_011520682.1:n.2104+64T>A
XM_011522381.1:c.1405+64T>A	XP_011520683.1:n.1405+64T>A
XM_011522382.1:c.2158+64T>A	XP_011520684.1:n.2158+64T>A
XM_005255124.4:c.2113+462T>A	XP_005255181.1:n.2113+462T>A
XM_005255125.4:c.2158+64T>A	XP_005255182.1:n.2158+64T>A
XM_006720848.3:c.2158+64T>A	XP_006720911.1:n.2158+64T>A
XM_011522381.2:c.1405+64T>A	XP_011520683.1:n.1405+64T>A
XM_011522382.3:c.2158+64T>A	XP_011520684.1:n.2158+64T>A
XM_017022944.1:c.2158+64T>A	XP_016878433.1:n.2158+64T>A
NM_004380.3:c.2158+64T>A MANE Select	NP_004371.2:n.2158+64T>A