Canonical Allele Identifier: CA493285197

Gene: CREBBP

Linked Data

• dbSNP Id: rs749266615
• MyVariant Identifiers: chr16:g.3807813G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757812G>C , CM000678.2:g.3757812G>C	GRCh38
NC_000016.9:g.3807813G>C , CM000678.1:g.3807813G>C	GRCh37
NC_000016.8:g.3747814G>C	NCBI36
NG_009873.1:g.127309C>G
NG_009873.2:g.127902C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3606C>G MANE Select	ENSP00000262367.5:p.Arg1202=
ENST00000262367.9:c.3606C>G	ENSP00000262367.5:p.Arg1202=
ENST00000382070.7:c.3492C>G	ENSP00000371502.3:p.Arg1164=
ENST00000570939.2:c.2211C>G	ENSP00000461002.2:p.Arg737=
NM_001079846.1:c.3492C>G	NP_001073315.1:p.Arg1164=
NM_004380.2:c.3606C>G	NP_004371.2:p.Arg1202=
XM_005255124.3:c.3561C>G	XP_005255181.1:p.Arg1187=
XM_005255125.3:c.3189C>G	XP_005255182.1:p.Arg1063=
XM_006720848.2:c.3606C>G	XP_006720911.1:p.Arg1202=
XM_011522380.1:c.3552C>G	XP_011520682.1:p.Arg1184=
XM_011522381.1:c.2853C>G	XP_011520683.1:p.Arg951=
XM_011522382.1:c.3606C>G	XP_011520684.1:p.Arg1202=
XM_005255124.4:c.3561C>G	XP_005255181.1:p.Arg1187=
XM_005255125.4:c.3189C>G	XP_005255182.1:p.Arg1063=
XM_006720848.3:c.3606C>G	XP_006720911.1:p.Arg1202=
XM_011522381.2:c.2853C>G	XP_011520683.1:p.Arg951=
XM_011522382.3:c.3606C>G	XP_011520684.1:p.Arg1202=
XM_017022944.1:c.3600C>G	XP_016878433.1:p.Arg1200=
NM_004380.3:c.3606C>G MANE Select	NP_004371.2:p.Arg1202=