Canonical Allele Identifier: CA394551251

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1710683
• ClinVar RCV Id: RCV002291970
• dbSNP Id: rs2151300550
• MyVariant Identifiers: chr16:g.3778134A>G (hg19) ; chr16:g.3728133A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728133A>G , CM000678.2:g.3728133A>G	GRCh38
NC_000016.9:g.3778134A>G , CM000678.1:g.3778134A>G	GRCh37
NC_000016.8:g.3718135A>G	NCBI36
NG_009873.1:g.156988T>C
NG_009873.2:g.157581T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6914T>C MANE Select	ENSP00000262367.5:p.Ile2305Thr
ENST00000262367.9:c.6914T>C	ENSP00000262367.5:p.Ile2305Thr
ENST00000382070.7:c.6800T>C	ENSP00000371502.3:p.Ile2267Thr
NM_001079846.1:c.6800T>C	NP_001073315.1:p.Ile2267Thr
NM_004380.2:c.6914T>C	NP_004371.2:p.Ile2305Thr
XM_005255124.3:c.6869T>C	XP_005255181.1:p.Ile2290Thr
XM_005255125.3:c.6497T>C	XP_005255182.1:p.Ile2166Thr
XM_006720848.2:c.6653T>C	XP_006720911.1:p.Ile2218Thr
XM_011522380.1:c.6860T>C	XP_011520682.1:p.Ile2287Thr
XM_011522381.1:c.6161T>C	XP_011520683.1:p.Ile2054Thr
XM_005255124.4:c.6869T>C	XP_005255181.1:p.Ile2290Thr
XM_005255125.4:c.6497T>C	XP_005255182.1:p.Ile2166Thr
XM_006720848.3:c.6653T>C	XP_006720911.1:p.Ile2218Thr
XM_011522381.2:c.6161T>C	XP_011520683.1:p.Ile2054Thr
XM_017022944.1:c.6908T>C	XP_016878433.1:p.Ile2303Thr
NM_004380.3:c.6914T>C MANE Select	NP_004371.2:p.Ile2305Thr