Canonical Allele Identifier: CA394563605

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329507
• MyVariant Identifiers: chr16:g.3786712T>C (hg19) ; chr16:g.3736711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736711T>C , CM000678.2:g.3736711T>C	GRCh38
NC_000016.9:g.3786712T>C , CM000678.1:g.3786712T>C	GRCh37
NC_000016.8:g.3726713T>C	NCBI36
NG_009873.1:g.148410A>G
NG_009873.2:g.149003A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4499A>G MANE Select	ENSP00000262367.5:p.Gln1500Arg
ENST00000262367.9:c.4499A>G	ENSP00000262367.5:p.Gln1500Arg
ENST00000382070.7:c.4385A>G	ENSP00000371502.3:p.Gln1462Arg
ENST00000570939.2:c.3134A>G	ENSP00000461002.2:p.Gln1045Arg
ENST00000571763.5:n.289A>G
ENST00000574740.1:n.320A>G
ENST00000576720.1:n.3322A>G
NM_001079846.1:c.4385A>G	NP_001073315.1:p.Gln1462Arg
NM_004380.2:c.4499A>G	NP_004371.2:p.Gln1500Arg
XM_005255124.3:c.4454A>G	XP_005255181.1:p.Gln1485Arg
XM_005255125.3:c.4082A>G	XP_005255182.1:p.Gln1361Arg
XM_006720848.2:c.4238A>G	XP_006720911.1:p.Gln1413Arg
XM_011522380.1:c.4445A>G	XP_011520682.1:p.Gln1482Arg
XM_011522381.1:c.3746A>G	XP_011520683.1:p.Gln1249Arg
XM_005255124.4:c.4454A>G	XP_005255181.1:p.Gln1485Arg
XM_005255125.4:c.4082A>G	XP_005255182.1:p.Gln1361Arg
XM_006720848.3:c.4238A>G	XP_006720911.1:p.Gln1413Arg
XM_011522381.2:c.3746A>G	XP_011520683.1:p.Gln1249Arg
XM_017022944.1:c.4493A>G	XP_016878433.1:p.Gln1498Arg
NM_004380.3:c.4499A>G MANE Select	NP_004371.2:p.Gln1500Arg