Canonical Allele Identifier: CA394565447

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3790515C>G (hg19) ; chr16:g.3740514C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740514C>G , CM000678.2:g.3740514C>G	GRCh38
NC_000016.9:g.3790515C>G , CM000678.1:g.3790515C>G	GRCh37
NC_000016.8:g.3730516C>G	NCBI36
NG_009873.1:g.144607G>C
NG_009873.2:g.145200G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4018G>C MANE Select	ENSP00000262367.5:p.Asp1340His
ENST00000262367.9:c.4018G>C	ENSP00000262367.5:p.Asp1340His
ENST00000382070.7:c.3904G>C	ENSP00000371502.3:p.Asp1302His
ENST00000570939.2:c.2653G>C	ENSP00000461002.2:p.Asp885His
ENST00000572569.1:n.482G>C
ENST00000573517.6:c.324G>C
ENST00000574740.1:n.100G>C
ENST00000576720.1:n.2955G>C
NM_001079846.1:c.3904G>C	NP_001073315.1:p.Asp1302His
NM_004380.2:c.4018G>C	NP_004371.2:p.Asp1340His
XM_005255124.3:c.3973G>C	XP_005255181.1:p.Asp1325His
XM_005255125.3:c.3601G>C	XP_005255182.1:p.Asp1201His
XM_006720848.2:c.4018G>C	XP_006720911.1:p.Asp1340His
XM_011522380.1:c.3964G>C	XP_011520682.1:p.Asp1322His
XM_011522381.1:c.3265G>C	XP_011520683.1:p.Asp1089His
XM_005255124.4:c.3973G>C	XP_005255181.1:p.Asp1325His
XM_005255125.4:c.3601G>C	XP_005255182.1:p.Asp1201His
XM_006720848.3:c.4018G>C	XP_006720911.1:p.Asp1340His
XM_011522381.2:c.3265G>C	XP_011520683.1:p.Asp1089His
XM_017022944.1:c.4012G>C	XP_016878433.1:p.Asp1338His
NM_004380.3:c.4018G>C MANE Select	NP_004371.2:p.Asp1340His