Canonical Allele Identifier: CA394554234

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141232419
• gnomAD v4: 16-3778011-T-C
• MyVariant Identifiers: chr16:g.3828012T>C (hg19) ; chr16:g.3778011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778011T>C , CM000678.2:g.3778011T>C	GRCh38
NC_000016.9:g.3828012T>C , CM000678.1:g.3828012T>C	GRCh37
NC_000016.8:g.3768013T>C	NCBI36
NG_009873.1:g.107110A>G
NG_009873.2:g.107703A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2113A>G MANE Select	ENSP00000262367.5:p.Asn705Asp
ENST00000262367.9:c.2113A>G	ENSP00000262367.5:p.Asn705Asp
ENST00000382070.7:c.1999A>G	ENSP00000371502.3:p.Asn667Asp
ENST00000570939.2:c.718A>G	ENSP00000461002.2:p.Asn240Asp
ENST00000571826.5:c.162A>G
ENST00000572134.1:c.426A>G
ENST00000634839.1:n.275A>G
NM_001079846.1:c.1999A>G	NP_001073315.1:p.Asn667Asp
NM_004380.2:c.2113A>G	NP_004371.2:p.Asn705Asp
XM_005255124.3:c.2113A>G	XP_005255181.1:p.Arg705Gly
XM_005255125.3:c.2113A>G	XP_005255182.1:p.Asn705Asp
XM_006720848.2:c.2113A>G	XP_006720911.1:p.Asn705Asp
XM_011522380.1:c.2059A>G	XP_011520682.1:p.Asn687Asp
XM_011522381.1:c.1360A>G	XP_011520683.1:p.Asn454Asp
XM_011522382.1:c.2113A>G	XP_011520684.1:p.Asn705Asp
XM_005255124.4:c.2113A>G	XP_005255181.1:p.Arg705Gly
XM_005255125.4:c.2113A>G	XP_005255182.1:p.Asn705Asp
XM_006720848.3:c.2113A>G	XP_006720911.1:p.Asn705Asp
XM_011522381.2:c.1360A>G	XP_011520683.1:p.Asn454Asp
XM_011522382.3:c.2113A>G	XP_011520684.1:p.Asn705Asp
XM_017022944.1:c.2113A>G	XP_016878433.1:p.Asn705Asp
NM_004380.3:c.2113A>G MANE Select	NP_004371.2:p.Asn705Asp