Canonical Allele Identifier: CA394563749

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786739T>G (hg19) ; chr16:g.3736738T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736738T>G , CM000678.2:g.3736738T>G	GRCh38
NC_000016.9:g.3786739T>G , CM000678.1:g.3786739T>G	GRCh37
NC_000016.8:g.3726740T>G	NCBI36
NG_009873.1:g.148383A>C
NG_009873.2:g.148976A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4472A>C MANE Select	ENSP00000262367.5:p.Gln1491Pro
ENST00000262367.9:c.4472A>C	ENSP00000262367.5:p.Gln1491Pro
ENST00000382070.7:c.4358A>C	ENSP00000371502.3:p.Gln1453Pro
ENST00000570939.2:c.3107A>C	ENSP00000461002.2:p.Gln1036Pro
ENST00000571763.5:n.262A>C
ENST00000574740.1:n.293A>C
ENST00000576720.1:n.3295A>C
NM_001079846.1:c.4358A>C	NP_001073315.1:p.Gln1453Pro
NM_004380.2:c.4472A>C	NP_004371.2:p.Gln1491Pro
XM_005255124.3:c.4427A>C	XP_005255181.1:p.Gln1476Pro
XM_005255125.3:c.4055A>C	XP_005255182.1:p.Gln1352Pro
XM_006720848.2:c.4211A>C	XP_006720911.1:p.Gln1404Pro
XM_011522380.1:c.4418A>C	XP_011520682.1:p.Gln1473Pro
XM_011522381.1:c.3719A>C	XP_011520683.1:p.Gln1240Pro
XM_005255124.4:c.4427A>C	XP_005255181.1:p.Gln1476Pro
XM_005255125.4:c.4055A>C	XP_005255182.1:p.Gln1352Pro
XM_006720848.3:c.4211A>C	XP_006720911.1:p.Gln1404Pro
XM_011522381.2:c.3719A>C	XP_011520683.1:p.Gln1240Pro
XM_017022944.1:c.4466A>C	XP_016878433.1:p.Gln1489Pro
NM_004380.3:c.4472A>C MANE Select	NP_004371.2:p.Gln1491Pro