Canonical Allele Identifier: CA394565299

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151340204
• gnomAD v4: 16-3740445-C-T
• MyVariant Identifiers: chr16:g.3790446C>T (hg19) ; chr16:g.3740445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740445C>T , CM000678.2:g.3740445C>T	GRCh38
NC_000016.9:g.3790446C>T , CM000678.1:g.3790446C>T	GRCh37
NC_000016.8:g.3730447C>T	NCBI36
NG_009873.1:g.144676G>A
NG_009873.2:g.145269G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4087G>A MANE Select	ENSP00000262367.5:p.Ala1363Thr
ENST00000262367.9:c.4087G>A	ENSP00000262367.5:p.Ala1363Thr
ENST00000382070.7:c.3973G>A	ENSP00000371502.3:p.Ala1325Thr
ENST00000570939.2:c.2722G>A	ENSP00000461002.2:p.Ala908Thr
ENST00000572569.1:n.551G>A
ENST00000573517.6:c.393G>A
ENST00000574740.1:n.169G>A
ENST00000576720.1:n.3024G>A
NM_001079846.1:c.3973G>A	NP_001073315.1:p.Ala1325Thr
NM_004380.2:c.4087G>A	NP_004371.2:p.Ala1363Thr
XM_005255124.3:c.4042G>A	XP_005255181.1:p.Ala1348Thr
XM_005255125.3:c.3670G>A	XP_005255182.1:p.Ala1224Thr
XM_006720848.2:c.4087G>A	XP_006720911.1:p.Ala1363Thr
XM_011522380.1:c.4033G>A	XP_011520682.1:p.Ala1345Thr
XM_011522381.1:c.3334G>A	XP_011520683.1:p.Ala1112Thr
XM_005255124.4:c.4042G>A	XP_005255181.1:p.Ala1348Thr
XM_005255125.4:c.3670G>A	XP_005255182.1:p.Ala1224Thr
XM_006720848.3:c.4087G>A	XP_006720911.1:p.Ala1363Thr
XM_011522381.2:c.3334G>A	XP_011520683.1:p.Ala1112Thr
XM_017022944.1:c.4081G>A	XP_016878433.1:p.Ala1361Thr
NM_004380.3:c.4087G>A MANE Select	NP_004371.2:p.Ala1363Thr