Canonical Allele Identifier: CA394554158

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3827657A>T (hg19) ; chr16:g.3777656A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3777656A>T , CM000678.2:g.3777656A>T	GRCh38
NC_000016.9:g.3827657A>T , CM000678.1:g.3827657A>T	GRCh37
NC_000016.8:g.3767658A>T	NCBI36
NG_009873.1:g.107465T>A
NG_009873.2:g.108058T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2115T>A MANE Select	ENSP00000262367.5:p.Asn705Lys
ENST00000262367.9:c.2115T>A	ENSP00000262367.5:p.Asn705Lys
ENST00000382070.7:c.2001T>A	ENSP00000371502.3:p.Asn667Lys
ENST00000570939.2:c.720T>A	ENSP00000461002.2:p.Asn240Lys
ENST00000571826.5:c.164T>A
ENST00000572134.1:c.426+355T>A
NM_001079846.1:c.2001T>A	NP_001073315.1:p.Asn667Lys
NM_004380.2:c.2115T>A	NP_004371.2:p.Asn705Lys
XM_005255124.3:c.2113+355T>A	XP_005255181.1:n.2113+355T>A
XM_005255125.3:c.2115T>A	XP_005255182.1:p.Asn705Lys
XM_006720848.2:c.2115T>A	XP_006720911.1:p.Asn705Lys
XM_011522380.1:c.2061T>A	XP_011520682.1:p.Asn687Lys
XM_011522381.1:c.1362T>A	XP_011520683.1:p.Asn454Lys
XM_011522382.1:c.2115T>A	XP_011520684.1:p.Asn705Lys
XM_005255124.4:c.2113+355T>A	XP_005255181.1:n.2113+355T>A
XM_005255125.4:c.2115T>A	XP_005255182.1:p.Asn705Lys
XM_006720848.3:c.2115T>A	XP_006720911.1:p.Asn705Lys
XM_011522381.2:c.1362T>A	XP_011520683.1:p.Asn454Lys
XM_011522382.3:c.2115T>A	XP_011520684.1:p.Asn705Lys
XM_017022944.1:c.2115T>A	XP_016878433.1:p.Asn705Lys
NM_004380.3:c.2115T>A MANE Select	NP_004371.2:p.Asn705Lys