Canonical Allele Identifier: CA493285393

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151385641
• MyVariant Identifiers: chr16:g.3808912C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3758911C>T , CM000678.2:g.3758911C>T	GRCh38
NC_000016.9:g.3808912C>T , CM000678.1:g.3808912C>T	GRCh37
NC_000016.8:g.3748913C>T	NCBI36
NG_009873.1:g.126210G>A
NG_009873.2:g.126803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3312G>A MANE Select	ENSP00000262367.5:p.Gln1104=
ENST00000262367.9:c.3312G>A	ENSP00000262367.5:p.Gln1104=
ENST00000382070.7:c.3198G>A	ENSP00000371502.3:p.Gln1066=
ENST00000570939.2:c.1917G>A	ENSP00000461002.2:p.Gln639=
NM_001079846.1:c.3198G>A	NP_001073315.1:p.Gln1066=
NM_004380.2:c.3312G>A	NP_004371.2:p.Gln1104=
XM_005255124.3:c.3267G>A	XP_005255181.1:p.Gln1089=
XM_005255125.3:c.2895G>A	XP_005255182.1:p.Gln965=
XM_006720848.2:c.3312G>A	XP_006720911.1:p.Gln1104=
XM_011522380.1:c.3258G>A	XP_011520682.1:p.Gln1086=
XM_011522381.1:c.2559G>A	XP_011520683.1:p.Gln853=
XM_011522382.1:c.3312G>A	XP_011520684.1:p.Gln1104=
XM_005255124.4:c.3267G>A	XP_005255181.1:p.Gln1089=
XM_005255125.4:c.2895G>A	XP_005255182.1:p.Gln965=
XM_006720848.3:c.3312G>A	XP_006720911.1:p.Gln1104=
XM_011522381.2:c.2559G>A	XP_011520683.1:p.Gln853=
XM_011522382.3:c.3312G>A	XP_011520684.1:p.Gln1104=
XM_017022944.1:c.3306G>A	XP_016878433.1:p.Gln1102=
NM_004380.3:c.3312G>A MANE Select	NP_004371.2:p.Gln1104=