Canonical Allele Identifier: CA394563591

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329487
• MyVariant Identifiers: chr16:g.3786710C>G (hg19) ; chr16:g.3736709C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736709C>G , CM000678.2:g.3736709C>G	GRCh38
NC_000016.9:g.3786710C>G , CM000678.1:g.3786710C>G	GRCh37
NC_000016.8:g.3726711C>G	NCBI36
NG_009873.1:g.148412G>C
NG_009873.2:g.149005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4501G>C MANE Select	ENSP00000262367.5:p.Glu1501Gln
ENST00000262367.9:c.4501G>C	ENSP00000262367.5:p.Glu1501Gln
ENST00000382070.7:c.4387G>C	ENSP00000371502.3:p.Glu1463Gln
ENST00000570939.2:c.3136G>C	ENSP00000461002.2:p.Glu1046Gln
ENST00000571763.5:n.291G>C
ENST00000574740.1:n.322G>C
ENST00000576720.1:n.3324G>C
NM_001079846.1:c.4387G>C	NP_001073315.1:p.Glu1463Gln
NM_004380.2:c.4501G>C	NP_004371.2:p.Glu1501Gln
XM_005255124.3:c.4456G>C	XP_005255181.1:p.Glu1486Gln
XM_005255125.3:c.4084G>C	XP_005255182.1:p.Glu1362Gln
XM_006720848.2:c.4240G>C	XP_006720911.1:p.Glu1414Gln
XM_011522380.1:c.4447G>C	XP_011520682.1:p.Glu1483Gln
XM_011522381.1:c.3748G>C	XP_011520683.1:p.Glu1250Gln
XM_005255124.4:c.4456G>C	XP_005255181.1:p.Glu1486Gln
XM_005255125.4:c.4084G>C	XP_005255182.1:p.Glu1362Gln
XM_006720848.3:c.4240G>C	XP_006720911.1:p.Glu1414Gln
XM_011522381.2:c.3748G>C	XP_011520683.1:p.Glu1250Gln
XM_017022944.1:c.4495G>C	XP_016878433.1:p.Glu1499Gln
NM_004380.3:c.4501G>C MANE Select	NP_004371.2:p.Glu1501Gln