Canonical Allele Identifier: CA493280335

Gene: CREBBP

Linked Data

• dbSNP Id: rs1279548473
• MyVariant Identifiers: chr16:g.3790444G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740443G>C , CM000678.2:g.3740443G>C	GRCh38
NC_000016.9:g.3790444G>C , CM000678.1:g.3790444G>C	GRCh37
NC_000016.8:g.3730445G>C	NCBI36
NG_009873.1:g.144678C>G
NG_009873.2:g.145271C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4089C>G MANE Select	ENSP00000262367.5:p.Ala1363=
ENST00000262367.9:c.4089C>G	ENSP00000262367.5:p.Ala1363=
ENST00000382070.7:c.3975C>G	ENSP00000371502.3:p.Ala1325=
ENST00000570939.2:c.2724C>G	ENSP00000461002.2:p.Ala908=
ENST00000572569.1:n.553C>G
ENST00000573517.6:c.395C>G
ENST00000574740.1:n.171C>G
ENST00000576720.1:n.3026C>G
NM_001079846.1:c.3975C>G	NP_001073315.1:p.Ala1325=
NM_004380.2:c.4089C>G	NP_004371.2:p.Ala1363=
XM_005255124.3:c.4044C>G	XP_005255181.1:p.Ala1348=
XM_005255125.3:c.3672C>G	XP_005255182.1:p.Ala1224=
XM_006720848.2:c.4089C>G	XP_006720911.1:p.Ala1363=
XM_011522380.1:c.4035C>G	XP_011520682.1:p.Ala1345=
XM_011522381.1:c.3336C>G	XP_011520683.1:p.Ala1112=
XM_005255124.4:c.4044C>G	XP_005255181.1:p.Ala1348=
XM_005255125.4:c.3672C>G	XP_005255182.1:p.Ala1224=
XM_006720848.3:c.4089C>G	XP_006720911.1:p.Ala1363=
XM_011522381.2:c.3336C>G	XP_011520683.1:p.Ala1112=
XM_017022944.1:c.4083C>G	XP_016878433.1:p.Ala1361=
NM_004380.3:c.4089C>G MANE Select	NP_004371.2:p.Ala1363=