Canonical Allele Identifier: CA2202917143

Gene: CREBBP

Linked Data

• dbSNP Id: rs893598592
• gnomAD v3: 16-3730068-T-G
• gnomAD v4: 16-3730068-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3730068T>G , CM000678.2:g.3730068T>G	GRCh38
NC_000016.9:g.3780069T>G , CM000678.1:g.3780069T>G	GRCh37
NC_000016.8:g.3720070T>G	NCBI36
NG_009873.1:g.155053A>C
NG_009873.2:g.155646A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-194A>C MANE Select	ENSP00000262367.5:n.5173-194A>C
ENST00000262367.9:c.5173-194A>C	ENSP00000262367.5:n.5173-194A>C
ENST00000382070.7:c.5059-194A>C	ENSP00000371502.3:n.5059-194A>C
NM_001079846.1:c.5059-194A>C	NP_001073315.1:n.5059-194A>C
NM_004380.2:c.5173-194A>C	NP_004371.2:n.5173-194A>C
XM_005255124.3:c.5128-194A>C	XP_005255181.1:n.5128-194A>C
XM_005255125.3:c.4756-194A>C	XP_005255182.1:n.4756-194A>C
XM_006720848.2:c.4912-194A>C	XP_006720911.1:n.4912-194A>C
XM_011522380.1:c.5119-194A>C	XP_011520682.1:n.5119-194A>C
XM_011522381.1:c.4420-194A>C	XP_011520683.1:n.4420-194A>C
XM_005255124.4:c.5128-194A>C	XP_005255181.1:n.5128-194A>C
XM_005255125.4:c.4756-194A>C	XP_005255182.1:n.4756-194A>C
XM_006720848.3:c.4912-194A>C	XP_006720911.1:n.4912-194A>C
XM_011522381.2:c.4420-194A>C	XP_011520683.1:n.4420-194A>C
XM_017022944.1:c.5167-194A>C	XP_016878433.1:n.5167-194A>C
NM_004380.3:c.5173-194A>C MANE Select	NP_004371.2:n.5173-194A>C