Canonical Allele Identifier: CA2631401520

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736565-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736565A>G , CM000678.2:g.3736565A>G	GRCh38
NC_000016.9:g.3786566A>G , CM000678.1:g.3786566A>G	GRCh37
NC_000016.8:g.3726567A>G	NCBI36
NG_009873.1:g.148556T>C
NG_009873.2:g.149149T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+85T>C MANE Select	ENSP00000262367.5:n.4560+85T>C
ENST00000262367.9:c.4560+85T>C	ENSP00000262367.5:n.4560+85T>C
ENST00000382070.7:c.4446+85T>C	ENSP00000371502.3:n.4446+85T>C
ENST00000570939.2:c.3195+85T>C	ENSP00000461002.2:n.3195+85T>C
ENST00000571763.5:n.350+85T>C
ENST00000574740.1:n.466T>C
ENST00000576720.1:n.3383+85T>C
NM_001079846.1:c.4446+85T>C	NP_001073315.1:n.4446+85T>C
NM_004380.2:c.4560+85T>C	NP_004371.2:n.4560+85T>C
XM_005255124.3:c.4515+85T>C	XP_005255181.1:n.4515+85T>C
XM_005255125.3:c.4143+85T>C	XP_005255182.1:n.4143+85T>C
XM_006720848.2:c.4299+85T>C	XP_006720911.1:n.4299+85T>C
XM_011522380.1:c.4506+85T>C	XP_011520682.1:n.4506+85T>C
XM_011522381.1:c.3807+85T>C	XP_011520683.1:n.3807+85T>C
XM_005255124.4:c.4515+85T>C	XP_005255181.1:n.4515+85T>C
XM_005255125.4:c.4143+85T>C	XP_005255182.1:n.4143+85T>C
XM_006720848.3:c.4299+85T>C	XP_006720911.1:n.4299+85T>C
XM_011522381.2:c.3807+85T>C	XP_011520683.1:n.3807+85T>C
XM_017022944.1:c.4554+85T>C	XP_016878433.1:n.4554+85T>C
NM_004380.3:c.4560+85T>C MANE Select	NP_004371.2:n.4560+85T>C