Canonical Allele Identifier: CA148152

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 95068
• ClinVar RCV Id: RCV000081073 ; RCV001523570 ; RCV001541503 ; RCV002490711 ; RCV002390236 ; RCV003915072
• dbSNP Id: rs142403441
• ExAC: 16:3900343 A / C
• gnomAD v2: 16-3900343-A-C
• gnomAD v3: 16-3850342-A-C
• gnomAD v4: 16-3850342-A-C
• MyVariant Identifiers: chr16:g.3900343A>C (hg19) ; chr16:g.3850342A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850342A>C , CM000678.2:g.3850342A>C	GRCh38
NC_000016.9:g.3900343A>C , CM000678.1:g.3900343A>C	GRCh37
NC_000016.8:g.3840344A>C	NCBI36
NG_009873.1:g.34779T>G
NG_009873.2:g.35372T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.753T>G MANE Select	ENSP00000262367.5:p.Thr251=
ENST00000262367.9:c.753T>G	ENSP00000262367.5:p.Thr251=
ENST00000382070.7:c.753T>G	ENSP00000371502.3:p.Thr251=
NM_001079846.1:c.753T>G	NP_001073315.1:p.Thr251=
NM_004380.2:c.753T>G	NP_004371.2:p.Thr251=
XM_005255124.3:c.753T>G	XP_005255181.1:p.Thr251=
XM_005255125.3:c.753T>G	XP_005255182.1:p.Thr251=
XM_006720848.2:c.753T>G	XP_006720911.1:p.Thr251=
XM_011522380.1:c.699T>G	XP_011520682.1:p.Thr233=
XM_011522382.1:c.753T>G	XP_011520684.1:p.Thr251=
XM_005255124.4:c.753T>G	XP_005255181.1:p.Thr251=
XM_005255125.4:c.753T>G	XP_005255182.1:p.Thr251=
XM_006720848.3:c.753T>G	XP_006720911.1:p.Thr251=
XM_011522382.3:c.753T>G	XP_011520684.1:p.Thr251=
XM_017022944.1:c.753T>G	XP_016878433.1:p.Thr251=
NM_004380.3:c.753T>G MANE Select	NP_004371.2:p.Thr251=