Canonical Allele Identifier: CA493393389

Gene: CREBBP

Linked Data

• dbSNP Id: rs759128035
• MyVariant Identifiers: chr16:g.3777986G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727985G>C , CM000678.2:g.3727985G>C	GRCh38
NC_000016.9:g.3777986G>C , CM000678.1:g.3777986G>C	GRCh37
NC_000016.8:g.3717987G>C	NCBI36
NG_009873.1:g.157136C>G
NG_009873.2:g.157729C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7062C>G MANE Select	ENSP00000262367.5:p.Pro2354=
ENST00000262367.9:c.7062C>G	ENSP00000262367.5:p.Pro2354=
ENST00000382070.7:c.6948C>G	ENSP00000371502.3:p.Pro2316=
NM_001079846.1:c.6948C>G	NP_001073315.1:p.Pro2316=
NM_004380.2:c.7062C>G	NP_004371.2:p.Pro2354=
XM_005255124.3:c.7017C>G	XP_005255181.1:p.Pro2339=
XM_005255125.3:c.6645C>G	XP_005255182.1:p.Pro2215=
XM_006720848.2:c.6801C>G	XP_006720911.1:p.Pro2267=
XM_011522380.1:c.7008C>G	XP_011520682.1:p.Pro2336=
XM_011522381.1:c.6309C>G	XP_011520683.1:p.Pro2103=
XM_005255124.4:c.7017C>G	XP_005255181.1:p.Pro2339=
XM_005255125.4:c.6645C>G	XP_005255182.1:p.Pro2215=
XM_006720848.3:c.6801C>G	XP_006720911.1:p.Pro2267=
XM_011522381.2:c.6309C>G	XP_011520683.1:p.Pro2103=
XM_017022944.1:c.7056C>G	XP_016878433.1:p.Pro2352=
NM_004380.3:c.7062C>G MANE Select	NP_004371.2:p.Pro2354=