Canonical Allele Identifier: CA394568596

Gene: CREBBP

Linked Data

• dbSNP Id: rs1481864759
• MyVariant Identifiers: chr16:g.3807837C>G (hg19) ; chr16:g.3757836C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757836C>G , CM000678.2:g.3757836C>G	GRCh38
NC_000016.9:g.3807837C>G , CM000678.1:g.3807837C>G	GRCh37
NC_000016.8:g.3747838C>G	NCBI36
NG_009873.1:g.127285G>C
NG_009873.2:g.127878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3582G>C MANE Select	ENSP00000262367.5:p.Gln1194His
ENST00000262367.9:c.3582G>C	ENSP00000262367.5:p.Gln1194His
ENST00000382070.7:c.3468G>C	ENSP00000371502.3:p.Gln1156His
ENST00000570939.2:c.2187G>C	ENSP00000461002.2:p.Gln729His
NM_001079846.1:c.3468G>C	NP_001073315.1:p.Gln1156His
NM_004380.2:c.3582G>C	NP_004371.2:p.Gln1194His
XM_005255124.3:c.3537G>C	XP_005255181.1:p.Gln1179His
XM_005255125.3:c.3165G>C	XP_005255182.1:p.Gln1055His
XM_006720848.2:c.3582G>C	XP_006720911.1:p.Gln1194His
XM_011522380.1:c.3528G>C	XP_011520682.1:p.Gln1176His
XM_011522381.1:c.2829G>C	XP_011520683.1:p.Gln943His
XM_011522382.1:c.3582G>C	XP_011520684.1:p.Gln1194His
XM_005255124.4:c.3537G>C	XP_005255181.1:p.Gln1179His
XM_005255125.4:c.3165G>C	XP_005255182.1:p.Gln1055His
XM_006720848.3:c.3582G>C	XP_006720911.1:p.Gln1194His
XM_011522381.2:c.2829G>C	XP_011520683.1:p.Gln943His
XM_011522382.3:c.3582G>C	XP_011520684.1:p.Gln1194His
XM_017022944.1:c.3576G>C	XP_016878433.1:p.Gln1192His
NM_004380.3:c.3582G>C MANE Select	NP_004371.2:p.Gln1194His