Canonical Allele Identifier: CA394551191

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300452
• gnomAD v4: 16-3728118-T-C
• MyVariant Identifiers: chr16:g.3778119T>C (hg19) ; chr16:g.3728118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728118T>C , CM000678.2:g.3728118T>C	GRCh38
NC_000016.9:g.3778119T>C , CM000678.1:g.3778119T>C	GRCh37
NC_000016.8:g.3718120T>C	NCBI36
NG_009873.1:g.157003A>G
NG_009873.2:g.157596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6929A>G MANE Select	ENSP00000262367.5:p.Gln2310Arg
ENST00000262367.9:c.6929A>G	ENSP00000262367.5:p.Gln2310Arg
ENST00000382070.7:c.6815A>G	ENSP00000371502.3:p.Gln2272Arg
NM_001079846.1:c.6815A>G	NP_001073315.1:p.Gln2272Arg
NM_004380.2:c.6929A>G	NP_004371.2:p.Gln2310Arg
XM_005255124.3:c.6884A>G	XP_005255181.1:p.Gln2295Arg
XM_005255125.3:c.6512A>G	XP_005255182.1:p.Gln2171Arg
XM_006720848.2:c.6668A>G	XP_006720911.1:p.Gln2223Arg
XM_011522380.1:c.6875A>G	XP_011520682.1:p.Gln2292Arg
XM_011522381.1:c.6176A>G	XP_011520683.1:p.Gln2059Arg
XM_005255124.4:c.6884A>G	XP_005255181.1:p.Gln2295Arg
XM_005255125.4:c.6512A>G	XP_005255182.1:p.Gln2171Arg
XM_006720848.3:c.6668A>G	XP_006720911.1:p.Gln2223Arg
XM_011522381.2:c.6176A>G	XP_011520683.1:p.Gln2059Arg
XM_017022944.1:c.6923A>G	XP_016878433.1:p.Gln2308Arg
NM_004380.3:c.6929A>G MANE Select	NP_004371.2:p.Gln2310Arg