Canonical Allele Identifier: CA973914938

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051780543
• gnomAD v3: 16-3727652-G-C
• gnomAD v4: 16-3727652-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727652G>C , CM000678.2:g.3727652G>C	GRCh38
NC_000016.9:g.3777653G>C , CM000678.1:g.3777653G>C	GRCh37
NC_000016.8:g.3717654G>C	NCBI36
NG_009873.1:g.157469C>G
NG_009873.2:g.158062C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.*66C>G MANE Select	ENSP00000262367.5:n.*66C>G
ENST00000262367.9:c.*66C>G	ENSP00000262367.5:n.*66C>G
ENST00000382070.7:c.*66C>G	ENSP00000371502.3:n.*66C>G
NM_001079846.1:c.*66C>G	NP_001073315.1:n.*66C>G
NM_004380.2:c.*66C>G	NP_004371.2:n.*66C>G
XM_005255124.3:c.*66C>G	XP_005255181.1:n.*66C>G
XM_005255125.3:c.*66C>G	XP_005255182.1:n.*66C>G
XM_006720848.2:c.*66C>G	XP_006720911.1:n.*66C>G
XM_011522380.1:c.*66C>G	XP_011520682.1:n.*66C>G
XM_011522381.1:c.*66C>G	XP_011520683.1:n.*66C>G
XM_005255124.4:c.*66C>G	XP_005255181.1:n.*66C>G
XM_005255125.4:c.*66C>G	XP_005255182.1:n.*66C>G
XM_006720848.3:c.*66C>G	XP_006720911.1:n.*66C>G
XM_011522381.2:c.*66C>G	XP_011520683.1:n.*66C>G
XM_017022944.1:c.*66C>G	XP_016878433.1:n.*66C>G
NM_004380.3:c.*66C>G MANE Select	NP_004371.2:n.*66C>G