Canonical Allele Identifier: CA2575963799

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3758819-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3758819G>T , CM000678.2:g.3758819G>T	GRCh38
NC_000016.9:g.3808820G>T , CM000678.1:g.3808820G>T	GRCh37
NC_000016.8:g.3748821G>T	NCBI36
NG_009873.1:g.126302C>A
NG_009873.2:g.126895C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3369+35C>A MANE Select	ENSP00000262367.5:n.3369+35C>A
ENST00000262367.9:c.3369+35C>A	ENSP00000262367.5:n.3369+35C>A
ENST00000382070.7:c.3255+35C>A	ENSP00000371502.3:n.3255+35C>A
ENST00000570939.2:c.1974+35C>A	ENSP00000461002.2:n.1974+35C>A
NM_001079846.1:c.3255+35C>A	NP_001073315.1:n.3255+35C>A
NM_004380.2:c.3369+35C>A	NP_004371.2:n.3369+35C>A
XM_005255124.3:c.3324+35C>A	XP_005255181.1:n.3324+35C>A
XM_005255125.3:c.2952+35C>A	XP_005255182.1:n.2952+35C>A
XM_006720848.2:c.3369+35C>A	XP_006720911.1:n.3369+35C>A
XM_011522380.1:c.3315+35C>A	XP_011520682.1:n.3315+35C>A
XM_011522381.1:c.2616+35C>A	XP_011520683.1:n.2616+35C>A
XM_011522382.1:c.3369+35C>A	XP_011520684.1:n.3369+35C>A
XM_005255124.4:c.3324+35C>A	XP_005255181.1:n.3324+35C>A
XM_005255125.4:c.2952+35C>A	XP_005255182.1:n.2952+35C>A
XM_006720848.3:c.3369+35C>A	XP_006720911.1:n.3369+35C>A
XM_011522381.2:c.2616+35C>A	XP_011520683.1:n.2616+35C>A
XM_011522382.3:c.3369+35C>A	XP_011520684.1:n.3369+35C>A
XM_017022944.1:c.3363+35C>A	XP_016878433.1:n.3363+35C>A
NM_004380.3:c.3369+35C>A MANE Select	NP_004371.2:n.3369+35C>A