Canonical Allele Identifier: CA973906871

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052062287
• gnomAD v3: 16-3736393-G-A
• gnomAD v4: 16-3736393-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736393G>A , CM000678.2:g.3736393G>A	GRCh38
NC_000016.9:g.3786394G>A , CM000678.1:g.3786394G>A	GRCh37
NC_000016.8:g.3726395G>A	NCBI36
NG_009873.1:g.148728C>T
NG_009873.2:g.149321C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-190C>T MANE Select	ENSP00000262367.5:n.4561-190C>T
ENST00000262367.9:c.4561-190C>T	ENSP00000262367.5:n.4561-190C>T
ENST00000382070.7:c.4447-190C>T	ENSP00000371502.3:n.4447-190C>T
ENST00000570939.2:c.3196-190C>T	ENSP00000461002.2:n.3196-190C>T
ENST00000571763.5:n.351-190C>T
ENST00000576720.1:n.3384-190C>T
NM_001079846.1:c.4447-190C>T	NP_001073315.1:n.4447-190C>T
NM_004380.2:c.4561-190C>T	NP_004371.2:n.4561-190C>T
XM_005255124.3:c.4516-190C>T	XP_005255181.1:n.4516-190C>T
XM_005255125.3:c.4144-190C>T	XP_005255182.1:n.4144-190C>T
XM_006720848.2:c.4300-190C>T	XP_006720911.1:n.4300-190C>T
XM_011522380.1:c.4507-190C>T	XP_011520682.1:n.4507-190C>T
XM_011522381.1:c.3808-190C>T	XP_011520683.1:n.3808-190C>T
XM_005255124.4:c.4516-190C>T	XP_005255181.1:n.4516-190C>T
XM_005255125.4:c.4144-190C>T	XP_005255182.1:n.4144-190C>T
XM_006720848.3:c.4300-190C>T	XP_006720911.1:n.4300-190C>T
XM_011522381.2:c.3808-190C>T	XP_011520683.1:n.3808-190C>T
XM_017022944.1:c.4555-190C>T	XP_016878433.1:n.4555-190C>T
NM_004380.3:c.4561-190C>T MANE Select	NP_004371.2:n.4561-190C>T