Canonical Allele Identifier: CA271396

Gene: CREBBP

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3749626C>T , CM000678.2:g.3749626C>T	GRCh38
NC_000016.9:g.3799627C>T , CM000678.1:g.3799627C>T	GRCh37
NC_000016.8:g.3739628C>T	NCBI36
NG_009873.1:g.135495G>A
NG_009873.2:g.136088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3836+1G>A MANE Select	ENSP00000262367.5:n.3836+1G>A
ENST00000638158.1:n.57+1G>A
ENST00000262367.9:c.3836+1G>A	ENSP00000262367.5:n.3836+1G>A
ENST00000382070.7:c.3722+1G>A	ENSP00000371502.3:n.3722+1G>A
ENST00000570939.2:c.2471+1G>A	ENSP00000461002.2:n.2471+1G>A
ENST00000573517.6:c.142+1G>A
NM_001079846.1:c.3722+1G>A	NP_001073315.1:n.3722+1G>A
NM_004380.2:c.3836+1G>A	NP_004371.2:n.3836+1G>A
XM_005255124.3:c.3791+1G>A	XP_005255181.1:n.3791+1G>A
XM_005255125.3:c.3419+1G>A	XP_005255182.1:n.3419+1G>A
XM_006720848.2:c.3836+1G>A	XP_006720911.1:n.3836+1G>A
XM_011522380.1:c.3782+1G>A	XP_011520682.1:n.3782+1G>A
XM_011522381.1:c.3083+1G>A	XP_011520683.1:n.3083+1G>A
XM_011522382.1:c.3836+1G>A	XP_011520684.1:n.3836+1G>A
XM_005255124.4:c.3791+1G>A	XP_005255181.1:n.3791+1G>A
XM_005255125.4:c.3419+1G>A	XP_005255182.1:n.3419+1G>A
XM_006720848.3:c.3836+1G>A	XP_006720911.1:n.3836+1G>A
XM_011522381.2:c.3083+1G>A	XP_011520683.1:n.3083+1G>A
XM_011522382.3:c.3836+1G>A	XP_011520684.1:n.3836+1G>A
XM_017022944.1:c.3830+1G>A	XP_016878433.1:n.3830+1G>A
NM_004380.3:c.3836+1G>A MANE Select	NP_004371.2:n.3836+1G>A