Canonical Allele Identifier: CA394563582

Gene: CREBBP

Linked Data

• dbSNP Id: rs200425104
• MyVariant Identifiers: chr16:g.3786708C>G (hg19) ; chr16:g.3736707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736707C>G , CM000678.2:g.3736707C>G	GRCh38
NC_000016.9:g.3786708C>G , CM000678.1:g.3786708C>G	GRCh37
NC_000016.8:g.3726709C>G	NCBI36
NG_009873.1:g.148414G>C
NG_009873.2:g.149007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4503G>C MANE Select	ENSP00000262367.5:p.Glu1501Asp
ENST00000262367.9:c.4503G>C	ENSP00000262367.5:p.Glu1501Asp
ENST00000382070.7:c.4389G>C	ENSP00000371502.3:p.Glu1463Asp
ENST00000570939.2:c.3138G>C	ENSP00000461002.2:p.Glu1046Asp
ENST00000571763.5:n.293G>C
ENST00000574740.1:n.324G>C
ENST00000576720.1:n.3326G>C
NM_001079846.1:c.4389G>C	NP_001073315.1:p.Glu1463Asp
NM_004380.2:c.4503G>C	NP_004371.2:p.Glu1501Asp
XM_005255124.3:c.4458G>C	XP_005255181.1:p.Glu1486Asp
XM_005255125.3:c.4086G>C	XP_005255182.1:p.Glu1362Asp
XM_006720848.2:c.4242G>C	XP_006720911.1:p.Glu1414Asp
XM_011522380.1:c.4449G>C	XP_011520682.1:p.Glu1483Asp
XM_011522381.1:c.3750G>C	XP_011520683.1:p.Glu1250Asp
XM_005255124.4:c.4458G>C	XP_005255181.1:p.Glu1486Asp
XM_005255125.4:c.4086G>C	XP_005255182.1:p.Glu1362Asp
XM_006720848.3:c.4242G>C	XP_006720911.1:p.Glu1414Asp
XM_011522381.2:c.3750G>C	XP_011520683.1:p.Glu1250Asp
XM_017022944.1:c.4497G>C	XP_016878433.1:p.Glu1499Asp
NM_004380.3:c.4503G>C MANE Select	NP_004371.2:p.Glu1501Asp