Canonical Allele Identifier: CA720718981

Gene: CREBBP

Linked Data

• dbSNP Id: rs1381837777
• gnomAD v3: 16-3729988-G-C
• gnomAD v4: 16-3729988-G-C
• MyVariant Identifiers: chr16:g.3779989G>C (hg19) ; chr16:g.3729988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729988G>C , CM000678.2:g.3729988G>C	GRCh38
NC_000016.9:g.3779989G>C , CM000678.1:g.3779989G>C	GRCh37
NC_000016.8:g.3719990G>C	NCBI36
NG_009873.1:g.155133C>G
NG_009873.2:g.155726C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-114C>G MANE Select	ENSP00000262367.5:n.5173-114C>G
ENST00000262367.9:c.5173-114C>G	ENSP00000262367.5:n.5173-114C>G
ENST00000382070.7:c.5059-114C>G	ENSP00000371502.3:n.5059-114C>G
NM_001079846.1:c.5059-114C>G	NP_001073315.1:n.5059-114C>G
NM_004380.2:c.5173-114C>G	NP_004371.2:n.5173-114C>G
XM_005255124.3:c.5128-114C>G	XP_005255181.1:n.5128-114C>G
XM_005255125.3:c.4756-114C>G	XP_005255182.1:n.4756-114C>G
XM_006720848.2:c.4912-114C>G	XP_006720911.1:n.4912-114C>G
XM_011522380.1:c.5119-114C>G	XP_011520682.1:n.5119-114C>G
XM_011522381.1:c.4420-114C>G	XP_011520683.1:n.4420-114C>G
XM_005255124.4:c.5128-114C>G	XP_005255181.1:n.5128-114C>G
XM_005255125.4:c.4756-114C>G	XP_005255182.1:n.4756-114C>G
XM_006720848.3:c.4912-114C>G	XP_006720911.1:n.4912-114C>G
XM_011522381.2:c.4420-114C>G	XP_011520683.1:n.4420-114C>G
XM_017022944.1:c.5167-114C>G	XP_016878433.1:n.5167-114C>G
NM_004380.3:c.5173-114C>G MANE Select	NP_004371.2:n.5173-114C>G