Canonical Allele Identifier: CA394554831

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151307056
• MyVariant Identifiers: chr16:g.3779089C>G (hg19) ; chr16:g.3729088C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729088C>G , CM000678.2:g.3729088C>G	GRCh38
NC_000016.9:g.3779089C>G , CM000678.1:g.3779089C>G	GRCh37
NC_000016.8:g.3719090C>G	NCBI36
NG_009873.1:g.156033G>C
NG_009873.2:g.156626G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5959G>C MANE Select	ENSP00000262367.5:p.Gly1987Arg
ENST00000262367.9:c.5959G>C	ENSP00000262367.5:p.Gly1987Arg
ENST00000382070.7:c.5845G>C	ENSP00000371502.3:p.Gly1949Arg
NM_001079846.1:c.5845G>C	NP_001073315.1:p.Gly1949Arg
NM_004380.2:c.5959G>C	NP_004371.2:p.Gly1987Arg
XM_005255124.3:c.5914G>C	XP_005255181.1:p.Gly1972Arg
XM_005255125.3:c.5542G>C	XP_005255182.1:p.Gly1848Arg
XM_006720848.2:c.5698G>C	XP_006720911.1:p.Gly1900Arg
XM_011522380.1:c.5905G>C	XP_011520682.1:p.Gly1969Arg
XM_011522381.1:c.5206G>C	XP_011520683.1:p.Gly1736Arg
XM_005255124.4:c.5914G>C	XP_005255181.1:p.Gly1972Arg
XM_005255125.4:c.5542G>C	XP_005255182.1:p.Gly1848Arg
XM_006720848.3:c.5698G>C	XP_006720911.1:p.Gly1900Arg
XM_011522381.2:c.5206G>C	XP_011520683.1:p.Gly1736Arg
XM_017022944.1:c.5953G>C	XP_016878433.1:p.Gly1985Arg
NM_004380.3:c.5959G>C MANE Select	NP_004371.2:p.Gly1987Arg