Canonical Allele Identifier: CA394551196

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300460
• MyVariant Identifiers: chr16:g.3778120G>C (hg19) ; chr16:g.3728119G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728119G>C , CM000678.2:g.3728119G>C	GRCh38
NC_000016.9:g.3778120G>C , CM000678.1:g.3778120G>C	GRCh37
NC_000016.8:g.3718121G>C	NCBI36
NG_009873.1:g.157002C>G
NG_009873.2:g.157595C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6928C>G MANE Select	ENSP00000262367.5:p.Gln2310Glu
ENST00000262367.9:c.6928C>G	ENSP00000262367.5:p.Gln2310Glu
ENST00000382070.7:c.6814C>G	ENSP00000371502.3:p.Gln2272Glu
NM_001079846.1:c.6814C>G	NP_001073315.1:p.Gln2272Glu
NM_004380.2:c.6928C>G	NP_004371.2:p.Gln2310Glu
XM_005255124.3:c.6883C>G	XP_005255181.1:p.Gln2295Glu
XM_005255125.3:c.6511C>G	XP_005255182.1:p.Gln2171Glu
XM_006720848.2:c.6667C>G	XP_006720911.1:p.Gln2223Glu
XM_011522380.1:c.6874C>G	XP_011520682.1:p.Gln2292Glu
XM_011522381.1:c.6175C>G	XP_011520683.1:p.Gln2059Glu
XM_005255124.4:c.6883C>G	XP_005255181.1:p.Gln2295Glu
XM_005255125.4:c.6511C>G	XP_005255182.1:p.Gln2171Glu
XM_006720848.3:c.6667C>G	XP_006720911.1:p.Gln2223Glu
XM_011522381.2:c.6175C>G	XP_011520683.1:p.Gln2059Glu
XM_017022944.1:c.6922C>G	XP_016878433.1:p.Gln2308Glu
NM_004380.3:c.6928C>G MANE Select	NP_004371.2:p.Gln2310Glu