Canonical Allele Identifier: CA493393803

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305839
• MyVariant Identifiers: chr16:g.3778901A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728900A>G , CM000678.2:g.3728900A>G	GRCh38
NC_000016.9:g.3778901A>G , CM000678.1:g.3778901A>G	GRCh37
NC_000016.8:g.3718902A>G	NCBI36
NG_009873.1:g.156221T>C
NG_009873.2:g.156814T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6147T>C MANE Select	ENSP00000262367.5:p.Ala2049=
ENST00000262367.9:c.6147T>C	ENSP00000262367.5:p.Ala2049=
ENST00000382070.7:c.6033T>C	ENSP00000371502.3:p.Ala2011=
NM_001079846.1:c.6033T>C	NP_001073315.1:p.Ala2011=
NM_004380.2:c.6147T>C	NP_004371.2:p.Ala2049=
XM_005255124.3:c.6102T>C	XP_005255181.1:p.Ala2034=
XM_005255125.3:c.5730T>C	XP_005255182.1:p.Ala1910=
XM_006720848.2:c.5886T>C	XP_006720911.1:p.Ala1962=
XM_011522380.1:c.6093T>C	XP_011520682.1:p.Ala2031=
XM_011522381.1:c.5394T>C	XP_011520683.1:p.Ala1798=
XM_005255124.4:c.6102T>C	XP_005255181.1:p.Ala2034=
XM_005255125.4:c.5730T>C	XP_005255182.1:p.Ala1910=
XM_006720848.3:c.5886T>C	XP_006720911.1:p.Ala1962=
XM_011522381.2:c.5394T>C	XP_011520683.1:p.Ala1798=
XM_017022944.1:c.6141T>C	XP_016878433.1:p.Ala2047=
NM_004380.3:c.6147T>C MANE Select	NP_004371.2:p.Ala2049=