Canonical Allele Identifier: CA720701553

Gene: CREBBP

Linked Data

• dbSNP Id: rs1300453619
• gnomAD v4: 16-3810823-A-C
• MyVariant Identifiers: chr16:g.3860824A>C (hg19) ; chr16:g.3810823A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810823A>C , CM000678.2:g.3810823A>C	GRCh38
NC_000016.9:g.3860824A>C , CM000678.1:g.3860824A>C	GRCh37
NC_000016.8:g.3800825A>C	NCBI36
NG_009873.1:g.74298T>G
NG_009873.2:g.74891T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.799-44T>G MANE Select	ENSP00000262367.5:n.799-44T>G
ENST00000635899.1:n.41-44T>G
ENST00000262367.9:c.799-44T>G	ENSP00000262367.5:n.799-44T>G
ENST00000382070.7:c.799-44T>G	ENSP00000371502.3:n.799-44T>G
NM_001079846.1:c.799-44T>G	NP_001073315.1:n.799-44T>G
NM_004380.2:c.799-44T>G	NP_004371.2:n.799-44T>G
XM_005255124.3:c.799-44T>G	XP_005255181.1:n.799-44T>G
XM_005255125.3:c.799-44T>G	XP_005255182.1:n.799-44T>G
XM_006720848.2:c.799-44T>G	XP_006720911.1:n.799-44T>G
XM_011522380.1:c.745-44T>G	XP_011520682.1:n.745-44T>G
XM_011522381.1:c.46-44T>G	XP_011520683.1:n.46-44T>G
XM_011522382.1:c.799-44T>G	XP_011520684.1:n.799-44T>G
XM_005255124.4:c.799-44T>G	XP_005255181.1:n.799-44T>G
XM_005255125.4:c.799-44T>G	XP_005255182.1:n.799-44T>G
XM_006720848.3:c.799-44T>G	XP_006720911.1:n.799-44T>G
XM_011522381.2:c.46-44T>G	XP_011520683.1:n.46-44T>G
XM_011522382.3:c.799-44T>G	XP_011520684.1:n.799-44T>G
XM_017022944.1:c.799-44T>G	XP_016878433.1:n.799-44T>G
NM_004380.3:c.799-44T>G MANE Select	NP_004371.2:n.799-44T>G