Canonical Allele Identifier: CA394563375

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052069630
• MyVariant Identifiers: chr16:g.3786672C>A (hg19) ; chr16:g.3736671C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736671C>A , CM000678.2:g.3736671C>A	GRCh38
NC_000016.9:g.3786672C>A , CM000678.1:g.3786672C>A	GRCh37
NC_000016.8:g.3726673C>A	NCBI36
NG_009873.1:g.148450G>T
NG_009873.2:g.149043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4539G>T MANE Select	ENSP00000262367.5:p.Glu1513Asp
ENST00000262367.9:c.4539G>T	ENSP00000262367.5:p.Glu1513Asp
ENST00000382070.7:c.4425G>T	ENSP00000371502.3:p.Glu1475Asp
ENST00000570939.2:c.3174G>T	ENSP00000461002.2:p.Glu1058Asp
ENST00000571763.5:n.329G>T
ENST00000574740.1:n.360G>T
ENST00000576720.1:n.3362G>T
NM_001079846.1:c.4425G>T	NP_001073315.1:p.Glu1475Asp
NM_004380.2:c.4539G>T	NP_004371.2:p.Glu1513Asp
XM_005255124.3:c.4494G>T	XP_005255181.1:p.Glu1498Asp
XM_005255125.3:c.4122G>T	XP_005255182.1:p.Glu1374Asp
XM_006720848.2:c.4278G>T	XP_006720911.1:p.Glu1426Asp
XM_011522380.1:c.4485G>T	XP_011520682.1:p.Glu1495Asp
XM_011522381.1:c.3786G>T	XP_011520683.1:p.Glu1262Asp
XM_005255124.4:c.4494G>T	XP_005255181.1:p.Glu1498Asp
XM_005255125.4:c.4122G>T	XP_005255182.1:p.Glu1374Asp
XM_006720848.3:c.4278G>T	XP_006720911.1:p.Glu1426Asp
XM_011522381.2:c.3786G>T	XP_011520683.1:p.Glu1262Asp
XM_017022944.1:c.4533G>T	XP_016878433.1:p.Glu1511Asp
NM_004380.3:c.4539G>T MANE Select	NP_004371.2:p.Glu1513Asp