Canonical Allele Identifier: CA394565295

Gene: CREBBP

Linked Data

• dbSNP Id: rs1343173815
• gnomAD v2: 16-3790445-G-C
• gnomAD v4: 16-3740444-G-C
• MyVariant Identifiers: chr16:g.3790445G>C (hg19) ; chr16:g.3740444G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740444G>C , CM000678.2:g.3740444G>C	GRCh38
NC_000016.9:g.3790445G>C , CM000678.1:g.3790445G>C	GRCh37
NC_000016.8:g.3730446G>C	NCBI36
NG_009873.1:g.144677C>G
NG_009873.2:g.145270C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4088C>G MANE Select	ENSP00000262367.5:p.Ala1363Gly
ENST00000262367.9:c.4088C>G	ENSP00000262367.5:p.Ala1363Gly
ENST00000382070.7:c.3974C>G	ENSP00000371502.3:p.Ala1325Gly
ENST00000570939.2:c.2723C>G	ENSP00000461002.2:p.Ala908Gly
ENST00000572569.1:n.552C>G
ENST00000573517.6:c.394C>G
ENST00000574740.1:n.170C>G
ENST00000576720.1:n.3025C>G
NM_001079846.1:c.3974C>G	NP_001073315.1:p.Ala1325Gly
NM_004380.2:c.4088C>G	NP_004371.2:p.Ala1363Gly
XM_005255124.3:c.4043C>G	XP_005255181.1:p.Ala1348Gly
XM_005255125.3:c.3671C>G	XP_005255182.1:p.Ala1224Gly
XM_006720848.2:c.4088C>G	XP_006720911.1:p.Ala1363Gly
XM_011522380.1:c.4034C>G	XP_011520682.1:p.Ala1345Gly
XM_011522381.1:c.3335C>G	XP_011520683.1:p.Ala1112Gly
XM_005255124.4:c.4043C>G	XP_005255181.1:p.Ala1348Gly
XM_005255125.4:c.3671C>G	XP_005255182.1:p.Ala1224Gly
XM_006720848.3:c.4088C>G	XP_006720911.1:p.Ala1363Gly
XM_011522381.2:c.3335C>G	XP_011520683.1:p.Ala1112Gly
XM_017022944.1:c.4082C>G	XP_016878433.1:p.Ala1361Gly
NM_004380.3:c.4088C>G MANE Select	NP_004371.2:p.Ala1363Gly