Canonical Allele Identifier: CA394563586

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329483
• MyVariant Identifiers: chr16:g.3786709T>C (hg19) ; chr16:g.3736708T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736708T>C , CM000678.2:g.3736708T>C	GRCh38
NC_000016.9:g.3786709T>C , CM000678.1:g.3786709T>C	GRCh37
NC_000016.8:g.3726710T>C	NCBI36
NG_009873.1:g.148413A>G
NG_009873.2:g.149006A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4502A>G MANE Select	ENSP00000262367.5:p.Glu1501Gly
ENST00000262367.9:c.4502A>G	ENSP00000262367.5:p.Glu1501Gly
ENST00000382070.7:c.4388A>G	ENSP00000371502.3:p.Glu1463Gly
ENST00000570939.2:c.3137A>G	ENSP00000461002.2:p.Glu1046Gly
ENST00000571763.5:n.292A>G
ENST00000574740.1:n.323A>G
ENST00000576720.1:n.3325A>G
NM_001079846.1:c.4388A>G	NP_001073315.1:p.Glu1463Gly
NM_004380.2:c.4502A>G	NP_004371.2:p.Glu1501Gly
XM_005255124.3:c.4457A>G	XP_005255181.1:p.Glu1486Gly
XM_005255125.3:c.4085A>G	XP_005255182.1:p.Glu1362Gly
XM_006720848.2:c.4241A>G	XP_006720911.1:p.Glu1414Gly
XM_011522380.1:c.4448A>G	XP_011520682.1:p.Glu1483Gly
XM_011522381.1:c.3749A>G	XP_011520683.1:p.Glu1250Gly
XM_005255124.4:c.4457A>G	XP_005255181.1:p.Glu1486Gly
XM_005255125.4:c.4085A>G	XP_005255182.1:p.Glu1362Gly
XM_006720848.3:c.4241A>G	XP_006720911.1:p.Glu1414Gly
XM_011522381.2:c.3749A>G	XP_011520683.1:p.Glu1250Gly
XM_017022944.1:c.4496A>G	XP_016878433.1:p.Glu1499Gly
NM_004380.3:c.4502A>G MANE Select	NP_004371.2:p.Glu1501Gly