Canonical Allele Identifier: CA493393456

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299727
• MyVariant Identifiers: chr16:g.3778016C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728015C>G , CM000678.2:g.3728015C>G	GRCh38
NC_000016.9:g.3778016C>G , CM000678.1:g.3778016C>G	GRCh37
NC_000016.8:g.3718017C>G	NCBI36
NG_009873.1:g.157106G>C
NG_009873.2:g.157699G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7032G>C MANE Select	ENSP00000262367.5:p.Arg2344=
ENST00000262367.9:c.7032G>C	ENSP00000262367.5:p.Arg2344=
ENST00000382070.7:c.6918G>C	ENSP00000371502.3:p.Arg2306=
NM_001079846.1:c.6918G>C	NP_001073315.1:p.Arg2306=
NM_004380.2:c.7032G>C	NP_004371.2:p.Arg2344=
XM_005255124.3:c.6987G>C	XP_005255181.1:p.Arg2329=
XM_005255125.3:c.6615G>C	XP_005255182.1:p.Arg2205=
XM_006720848.2:c.6771G>C	XP_006720911.1:p.Arg2257=
XM_011522380.1:c.6978G>C	XP_011520682.1:p.Arg2326=
XM_011522381.1:c.6279G>C	XP_011520683.1:p.Arg2093=
XM_005255124.4:c.6987G>C	XP_005255181.1:p.Arg2329=
XM_005255125.4:c.6615G>C	XP_005255182.1:p.Arg2205=
XM_006720848.3:c.6771G>C	XP_006720911.1:p.Arg2257=
XM_011522381.2:c.6279G>C	XP_011520683.1:p.Arg2093=
XM_017022944.1:c.7026G>C	XP_016878433.1:p.Arg2342=
NM_004380.3:c.7032G>C MANE Select	NP_004371.2:p.Arg2344=