Canonical Allele Identifier: CA394551186

Gene: CREBBP

Linked Data

• dbSNP Id: rs764944681
• MyVariant Identifiers: chr16:g.3778118C>G (hg19) ; chr16:g.3728117C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728117C>G , CM000678.2:g.3728117C>G	GRCh38
NC_000016.9:g.3778118C>G , CM000678.1:g.3778118C>G	GRCh37
NC_000016.8:g.3718119C>G	NCBI36
NG_009873.1:g.157004G>C
NG_009873.2:g.157597G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6930G>C MANE Select	ENSP00000262367.5:p.Gln2310His
ENST00000262367.9:c.6930G>C	ENSP00000262367.5:p.Gln2310His
ENST00000382070.7:c.6816G>C	ENSP00000371502.3:p.Gln2272His
NM_001079846.1:c.6816G>C	NP_001073315.1:p.Gln2272His
NM_004380.2:c.6930G>C	NP_004371.2:p.Gln2310His
XM_005255124.3:c.6885G>C	XP_005255181.1:p.Gln2295His
XM_005255125.3:c.6513G>C	XP_005255182.1:p.Gln2171His
XM_006720848.2:c.6669G>C	XP_006720911.1:p.Gln2223His
XM_011522380.1:c.6876G>C	XP_011520682.1:p.Gln2292His
XM_011522381.1:c.6177G>C	XP_011520683.1:p.Gln2059His
XM_005255124.4:c.6885G>C	XP_005255181.1:p.Gln2295His
XM_005255125.4:c.6513G>C	XP_005255182.1:p.Gln2171His
XM_006720848.3:c.6669G>C	XP_006720911.1:p.Gln2223His
XM_011522381.2:c.6177G>C	XP_011520683.1:p.Gln2059His
XM_017022944.1:c.6924G>C	XP_016878433.1:p.Gln2308His
NM_004380.3:c.6930G>C MANE Select	NP_004371.2:p.Gln2310His