Canonical Allele Identifier: CA394554324

Gene: CREBBP

Linked Data

• dbSNP Id: rs2053186548
• MyVariant Identifiers: chr16:g.3828034C>G (hg19) ; chr16:g.3778033C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778033C>G , CM000678.2:g.3778033C>G	GRCh38
NC_000016.9:g.3828034C>G , CM000678.1:g.3828034C>G	GRCh37
NC_000016.8:g.3768035C>G	NCBI36
NG_009873.1:g.107088G>C
NG_009873.2:g.107681G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2091G>C MANE Select	ENSP00000262367.5:p.Gln697His
ENST00000262367.9:c.2091G>C	ENSP00000262367.5:p.Gln697His
ENST00000382070.7:c.1977G>C	ENSP00000371502.3:p.Gln659His
ENST00000570939.2:c.696G>C	ENSP00000461002.2:p.Gln232His
ENST00000571826.5:c.140G>C
ENST00000572134.1:c.404G>C
ENST00000634839.1:n.253G>C
NM_001079846.1:c.1977G>C	NP_001073315.1:p.Gln659His
NM_004380.2:c.2091G>C	NP_004371.2:p.Gln697His
XM_005255124.3:c.2091G>C	XP_005255181.1:p.Gln697His
XM_005255125.3:c.2091G>C	XP_005255182.1:p.Gln697His
XM_006720848.2:c.2091G>C	XP_006720911.1:p.Gln697His
XM_011522380.1:c.2037G>C	XP_011520682.1:p.Gln679His
XM_011522381.1:c.1338G>C	XP_011520683.1:p.Gln446His
XM_011522382.1:c.2091G>C	XP_011520684.1:p.Gln697His
XM_005255124.4:c.2091G>C	XP_005255181.1:p.Gln697His
XM_005255125.4:c.2091G>C	XP_005255182.1:p.Gln697His
XM_006720848.3:c.2091G>C	XP_006720911.1:p.Gln697His
XM_011522381.2:c.1338G>C	XP_011520683.1:p.Gln446His
XM_011522382.3:c.2091G>C	XP_011520684.1:p.Gln697His
XM_017022944.1:c.2091G>C	XP_016878433.1:p.Gln697His
NM_004380.3:c.2091G>C MANE Select	NP_004371.2:p.Gln697His