Canonical Allele Identifier: CA2631402685

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3739450-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739450T>G , CM000678.2:g.3739450T>G	GRCh38
NC_000016.9:g.3789451T>G , CM000678.1:g.3789451T>G	GRCh37
NC_000016.8:g.3729452T>G	NCBI36
NG_009873.1:g.145671A>C
NG_009873.2:g.146264A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4280+128A>C MANE Select	ENSP00000262367.5:n.4280+128A>C
ENST00000262367.9:c.4280+128A>C	ENSP00000262367.5:n.4280+128A>C
ENST00000382070.7:c.4166+128A>C	ENSP00000371502.3:n.4166+128A>C
ENST00000570939.2:c.2915+128A>C	ENSP00000461002.2:n.2915+128A>C
ENST00000573517.6:c.714A>C
ENST00000574740.1:n.215+949A>C
ENST00000576720.1:n.3217+128A>C
NM_001079846.1:c.4166+128A>C	NP_001073315.1:n.4166+128A>C
NM_004380.2:c.4280+128A>C	NP_004371.2:n.4280+128A>C
XM_005255124.3:c.4235+128A>C	XP_005255181.1:n.4235+128A>C
XM_005255125.3:c.3863+128A>C	XP_005255182.1:n.3863+128A>C
XM_006720848.2:c.4133+949A>C	XP_006720911.1:n.4133+949A>C
XM_011522380.1:c.4226+128A>C	XP_011520682.1:n.4226+128A>C
XM_011522381.1:c.3527+128A>C	XP_011520683.1:n.3527+128A>C
XM_005255124.4:c.4235+128A>C	XP_005255181.1:n.4235+128A>C
XM_005255125.4:c.3863+128A>C	XP_005255182.1:n.3863+128A>C
XM_006720848.3:c.4133+949A>C	XP_006720911.1:n.4133+949A>C
XM_011522381.2:c.3527+128A>C	XP_011520683.1:n.3527+128A>C
XM_017022944.1:c.4274+128A>C	XP_016878433.1:n.4274+128A>C
NM_004380.3:c.4280+128A>C MANE Select	NP_004371.2:n.4280+128A>C