Canonical Allele Identifier: CA2631423263

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3740286-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740286G>A , CM000678.2:g.3740286G>A	GRCh38
NC_000016.9:g.3790287G>A , CM000678.1:g.3790287G>A	GRCh37
NC_000016.8:g.3730288G>A	NCBI36
NG_009873.1:g.144835C>T
NG_009873.2:g.145428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+113C>T MANE Select	ENSP00000262367.5:n.4133+113C>T
ENST00000262367.9:c.4133+113C>T	ENSP00000262367.5:n.4133+113C>T
ENST00000382070.7:c.4019+113C>T	ENSP00000371502.3:n.4019+113C>T
ENST00000570939.2:c.2768+113C>T	ENSP00000461002.2:n.2768+113C>T
ENST00000573517.6:c.439+113C>T
ENST00000574740.1:n.215+113C>T
ENST00000576720.1:n.3070+113C>T
NM_001079846.1:c.4019+113C>T	NP_001073315.1:n.4019+113C>T
NM_004380.2:c.4133+113C>T	NP_004371.2:n.4133+113C>T
XM_005255124.3:c.4088+113C>T	XP_005255181.1:n.4088+113C>T
XM_005255125.3:c.3716+113C>T	XP_005255182.1:n.3716+113C>T
XM_006720848.2:c.4133+113C>T	XP_006720911.1:n.4133+113C>T
XM_011522380.1:c.4079+113C>T	XP_011520682.1:n.4079+113C>T
XM_011522381.1:c.3380+113C>T	XP_011520683.1:n.3380+113C>T
XM_005255124.4:c.4088+113C>T	XP_005255181.1:n.4088+113C>T
XM_005255125.4:c.3716+113C>T	XP_005255182.1:n.3716+113C>T
XM_006720848.3:c.4133+113C>T	XP_006720911.1:n.4133+113C>T
XM_011522381.2:c.3380+113C>T	XP_011520683.1:n.3380+113C>T
XM_017022944.1:c.4127+113C>T	XP_016878433.1:n.4127+113C>T
NM_004380.3:c.4133+113C>T MANE Select	NP_004371.2:n.4133+113C>T