Canonical Allele Identifier: CA493393219

Gene: CREBBP

Linked Data

• dbSNP Id: rs56060400
• gnomAD v3: 16-3727838-G-C
• gnomAD v4: 16-3727838-G-C
• MyVariant Identifiers: chr16:g.3777839G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727838G>C , CM000678.2:g.3727838G>C	GRCh38
NC_000016.9:g.3777839G>C , CM000678.1:g.3777839G>C	GRCh37
NC_000016.8:g.3717840G>C	NCBI36
NG_009873.1:g.157283C>G
NG_009873.2:g.157876C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7209C>G MANE Select	ENSP00000262367.5:p.Pro2403=
ENST00000262367.9:c.7209C>G	ENSP00000262367.5:p.Pro2403=
ENST00000382070.7:c.7095C>G	ENSP00000371502.3:p.Pro2365=
NM_001079846.1:c.7095C>G	NP_001073315.1:p.Pro2365=
NM_004380.2:c.7209C>G	NP_004371.2:p.Pro2403=
XM_005255124.3:c.7164C>G	XP_005255181.1:p.Pro2388=
XM_005255125.3:c.6792C>G	XP_005255182.1:p.Pro2264=
XM_006720848.2:c.6948C>G	XP_006720911.1:p.Pro2316=
XM_011522380.1:c.7155C>G	XP_011520682.1:p.Pro2385=
XM_011522381.1:c.6456C>G	XP_011520683.1:p.Pro2152=
XM_005255124.4:c.7164C>G	XP_005255181.1:p.Pro2388=
XM_005255125.4:c.6792C>G	XP_005255182.1:p.Pro2264=
XM_006720848.3:c.6948C>G	XP_006720911.1:p.Pro2316=
XM_011522381.2:c.6456C>G	XP_011520683.1:p.Pro2152=
XM_017022944.1:c.7203C>G	XP_016878433.1:p.Pro2401=
NM_004380.3:c.7209C>G MANE Select	NP_004371.2:p.Pro2403=