Canonical Allele Identifier: CA222697

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 95048
• ClinVar RCV Id: RCV000081053
• dbSNP Id: rs398124147
• MyVariant Identifiers: chr16:g.3786730G>C (hg19) ; chr16:g.3736729G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736729G>C , CM000678.2:g.3736729G>C	GRCh38
NC_000016.9:g.3786730G>C , CM000678.1:g.3786730G>C	GRCh37
NC_000016.8:g.3726731G>C	NCBI36
NG_009873.1:g.148392C>G
NG_009873.2:g.148985C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4481C>G MANE Select	ENSP00000262367.5:p.Pro1494Arg
ENST00000262367.9:c.4481C>G	ENSP00000262367.5:p.Pro1494Arg
ENST00000382070.7:c.4367C>G	ENSP00000371502.3:p.Pro1456Arg
ENST00000570939.2:c.3116C>G	ENSP00000461002.2:p.Pro1039Arg
ENST00000571763.5:n.271C>G
ENST00000574740.1:n.302C>G
ENST00000576720.1:n.3304C>G
NM_001079846.1:c.4367C>G	NP_001073315.1:p.Pro1456Arg
NM_004380.2:c.4481C>G	NP_004371.2:p.Pro1494Arg
XM_005255124.3:c.4436C>G	XP_005255181.1:p.Pro1479Arg
XM_005255125.3:c.4064C>G	XP_005255182.1:p.Pro1355Arg
XM_006720848.2:c.4220C>G	XP_006720911.1:p.Pro1407Arg
XM_011522380.1:c.4427C>G	XP_011520682.1:p.Pro1476Arg
XM_011522381.1:c.3728C>G	XP_011520683.1:p.Pro1243Arg
XM_005255124.4:c.4436C>G	XP_005255181.1:p.Pro1479Arg
XM_005255125.4:c.4064C>G	XP_005255182.1:p.Pro1355Arg
XM_006720848.3:c.4220C>G	XP_006720911.1:p.Pro1407Arg
XM_011522381.2:c.3728C>G	XP_011520683.1:p.Pro1243Arg
XM_017022944.1:c.4475C>G	XP_016878433.1:p.Pro1492Arg
NM_004380.3:c.4481C>G MANE Select	NP_004371.2:p.Pro1494Arg