Canonical Allele Identifier: CA493393849

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778949T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728948T>C , CM000678.2:g.3728948T>C	GRCh38
NC_000016.9:g.3778949T>C , CM000678.1:g.3778949T>C	GRCh37
NC_000016.8:g.3718950T>C	NCBI36
NG_009873.1:g.156173A>G
NG_009873.2:g.156766A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6099A>G MANE Select	ENSP00000262367.5:p.Pro2033=
ENST00000262367.9:c.6099A>G	ENSP00000262367.5:p.Pro2033=
ENST00000382070.7:c.5985A>G	ENSP00000371502.3:p.Pro1995=
NM_001079846.1:c.5985A>G	NP_001073315.1:p.Pro1995=
NM_004380.2:c.6099A>G	NP_004371.2:p.Pro2033=
XM_005255124.3:c.6054A>G	XP_005255181.1:p.Pro2018=
XM_005255125.3:c.5682A>G	XP_005255182.1:p.Pro1894=
XM_006720848.2:c.5838A>G	XP_006720911.1:p.Pro1946=
XM_011522380.1:c.6045A>G	XP_011520682.1:p.Pro2015=
XM_011522381.1:c.5346A>G	XP_011520683.1:p.Pro1782=
XM_005255124.4:c.6054A>G	XP_005255181.1:p.Pro2018=
XM_005255125.4:c.5682A>G	XP_005255182.1:p.Pro1894=
XM_006720848.3:c.5838A>G	XP_006720911.1:p.Pro1946=
XM_011522381.2:c.5346A>G	XP_011520683.1:p.Pro1782=
XM_017022944.1:c.6093A>G	XP_016878433.1:p.Pro2031=
NM_004380.3:c.6099A>G MANE Select	NP_004371.2:p.Pro2033=