Canonical Allele Identifier: CA973910204

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052334632
• gnomAD v3: 16-3746054-A-C
• gnomAD v4: 16-3746054-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3746054A>C , CM000678.2:g.3746054A>C	GRCh38
NC_000016.9:g.3796055A>C , CM000678.1:g.3796055A>C	GRCh37
NC_000016.8:g.3736056A>C	NCBI36
NG_009873.1:g.139067T>G
NG_009873.2:g.139660T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3837-700T>G MANE Select	ENSP00000262367.5:n.3837-700T>G
ENST00000638158.1:n.58-459T>G
ENST00000262367.9:c.3837-700T>G	ENSP00000262367.5:n.3837-700T>G
ENST00000382070.7:c.3723-700T>G	ENSP00000371502.3:n.3723-700T>G
ENST00000570939.2:c.2472-700T>G	ENSP00000461002.2:n.2472-700T>G
ENST00000573517.6:c.143-700T>G
NM_001079846.1:c.3723-700T>G	NP_001073315.1:n.3723-700T>G
NM_004380.2:c.3837-700T>G	NP_004371.2:n.3837-700T>G
XM_005255124.3:c.3792-700T>G	XP_005255181.1:n.3792-700T>G
XM_005255125.3:c.3420-700T>G	XP_005255182.1:n.3420-700T>G
XM_006720848.2:c.3837-700T>G	XP_006720911.1:n.3837-700T>G
XM_011522380.1:c.3783-700T>G	XP_011520682.1:n.3783-700T>G
XM_011522381.1:c.3084-700T>G	XP_011520683.1:n.3084-700T>G
XM_011522382.1:c.3837-459T>G	XP_011520684.1:n.3837-459T>G
XM_005255124.4:c.3792-700T>G	XP_005255181.1:n.3792-700T>G
XM_005255125.4:c.3420-700T>G	XP_005255182.1:n.3420-700T>G
XM_006720848.3:c.3837-700T>G	XP_006720911.1:n.3837-700T>G
XM_011522381.2:c.3084-700T>G	XP_011520683.1:n.3084-700T>G
XM_011522382.3:c.3837-459T>G	XP_011520684.1:n.3837-459T>G
XM_017022944.1:c.3831-700T>G	XP_016878433.1:n.3831-700T>G
NM_004380.3:c.3837-700T>G MANE Select	NP_004371.2:n.3837-700T>G