Canonical Allele Identifier: CA2631402710

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3739470-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739470T>A , CM000678.2:g.3739470T>A	GRCh38
NC_000016.9:g.3789471T>A , CM000678.1:g.3789471T>A	GRCh37
NC_000016.8:g.3729472T>A	NCBI36
NG_009873.1:g.145651A>T
NG_009873.2:g.146244A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4280+108A>T MANE Select	ENSP00000262367.5:n.4280+108A>T
ENST00000262367.9:c.4280+108A>T	ENSP00000262367.5:n.4280+108A>T
ENST00000382070.7:c.4166+108A>T	ENSP00000371502.3:n.4166+108A>T
ENST00000570939.2:c.2915+108A>T	ENSP00000461002.2:n.2915+108A>T
ENST00000573517.6:c.694A>T
ENST00000574740.1:n.215+929A>T
ENST00000576720.1:n.3217+108A>T
NM_001079846.1:c.4166+108A>T	NP_001073315.1:n.4166+108A>T
NM_004380.2:c.4280+108A>T	NP_004371.2:n.4280+108A>T
XM_005255124.3:c.4235+108A>T	XP_005255181.1:n.4235+108A>T
XM_005255125.3:c.3863+108A>T	XP_005255182.1:n.3863+108A>T
XM_006720848.2:c.4133+929A>T	XP_006720911.1:n.4133+929A>T
XM_011522380.1:c.4226+108A>T	XP_011520682.1:n.4226+108A>T
XM_011522381.1:c.3527+108A>T	XP_011520683.1:n.3527+108A>T
XM_005255124.4:c.4235+108A>T	XP_005255181.1:n.4235+108A>T
XM_005255125.4:c.3863+108A>T	XP_005255182.1:n.3863+108A>T
XM_006720848.3:c.4133+929A>T	XP_006720911.1:n.4133+929A>T
XM_011522381.2:c.3527+108A>T	XP_011520683.1:n.3527+108A>T
XM_017022944.1:c.4274+108A>T	XP_016878433.1:n.4274+108A>T
NM_004380.3:c.4280+108A>T MANE Select	NP_004371.2:n.4280+108A>T