Canonical Allele Identifier: CA493393599

Gene: CREBBP

Linked Data

• dbSNP Id: rs764944681
• MyVariant Identifiers: chr16:g.3778118C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6930G>A MANE Select	ENSP00000262367.5:p.Gln2310=
ENST00000262367.9:c.6930G>A	ENSP00000262367.5:p.Gln2310=
ENST00000382070.7:c.6816G>A	ENSP00000371502.3:p.Gln2272=
NM_001079846.1:c.6816G>A	NP_001073315.1:p.Gln2272=
NM_004380.2:c.6930G>A	NP_004371.2:p.Gln2310=
XM_005255124.3:c.6885G>A	XP_005255181.1:p.Gln2295=
XM_005255125.3:c.6513G>A	XP_005255182.1:p.Gln2171=
XM_006720848.2:c.6669G>A	XP_006720911.1:p.Gln2223=
XM_011522380.1:c.6876G>A	XP_011520682.1:p.Gln2292=
XM_011522381.1:c.6177G>A	XP_011520683.1:p.Gln2059=
XM_005255124.4:c.6885G>A	XP_005255181.1:p.Gln2295=
XM_005255125.4:c.6513G>A	XP_005255182.1:p.Gln2171=
XM_006720848.3:c.6669G>A	XP_006720911.1:p.Gln2223=
XM_011522381.2:c.6177G>A	XP_011520683.1:p.Gln2059=
XM_017022944.1:c.6924G>A	XP_016878433.1:p.Gln2308=
NM_004380.3:c.6930G>A MANE Select	NP_004371.2:p.Gln2310=