Canonical Allele Identifier: CA493393696

Gene: CREBBP

Linked Data

• dbSNP Id: rs760416798
• MyVariant Identifiers: chr16:g.3778832C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728831C>G , CM000678.2:g.3728831C>G	GRCh38
NC_000016.9:g.3778832C>G , CM000678.1:g.3778832C>G	GRCh37
NC_000016.8:g.3718833C>G	NCBI36
NG_009873.1:g.156290G>C
NG_009873.2:g.156883G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6216G>C MANE Select	ENSP00000262367.5:p.Arg2072=
ENST00000262367.9:c.6216G>C	ENSP00000262367.5:p.Arg2072=
ENST00000382070.7:c.6102G>C	ENSP00000371502.3:p.Arg2034=
NM_001079846.1:c.6102G>C	NP_001073315.1:p.Arg2034=
NM_004380.2:c.6216G>C	NP_004371.2:p.Arg2072=
XM_005255124.3:c.6171G>C	XP_005255181.1:p.Arg2057=
XM_005255125.3:c.5799G>C	XP_005255182.1:p.Arg1933=
XM_006720848.2:c.5955G>C	XP_006720911.1:p.Arg1985=
XM_011522380.1:c.6162G>C	XP_011520682.1:p.Arg2054=
XM_011522381.1:c.5463G>C	XP_011520683.1:p.Arg1821=
XM_005255124.4:c.6171G>C	XP_005255181.1:p.Arg2057=
XM_005255125.4:c.5799G>C	XP_005255182.1:p.Arg1933=
XM_006720848.3:c.5955G>C	XP_006720911.1:p.Arg1985=
XM_011522381.2:c.5463G>C	XP_011520683.1:p.Arg1821=
XM_017022944.1:c.6210G>C	XP_016878433.1:p.Arg2070=
NM_004380.3:c.6216G>C MANE Select	NP_004371.2:p.Arg2072=