Canonical Allele Identifier: CA493394318

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051862667
• gnomAD v4: 16-3729830-G-C
• MyVariant Identifiers: chr16:g.3779831G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729830G>C , CM000678.2:g.3729830G>C	GRCh38
NC_000016.9:g.3779831G>C , CM000678.1:g.3779831G>C	GRCh37
NC_000016.8:g.3719832G>C	NCBI36
NG_009873.1:g.155291C>G
NG_009873.2:g.155884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5217C>G MANE Select	ENSP00000262367.5:p.Ala1739=
ENST00000262367.9:c.5217C>G	ENSP00000262367.5:p.Ala1739=
ENST00000382070.7:c.5103C>G	ENSP00000371502.3:p.Ala1701=
NM_001079846.1:c.5103C>G	NP_001073315.1:p.Ala1701=
NM_004380.2:c.5217C>G	NP_004371.2:p.Ala1739=
XM_005255124.3:c.5172C>G	XP_005255181.1:p.Ala1724=
XM_005255125.3:c.4800C>G	XP_005255182.1:p.Ala1600=
XM_006720848.2:c.4956C>G	XP_006720911.1:p.Ala1652=
XM_011522380.1:c.5163C>G	XP_011520682.1:p.Ala1721=
XM_011522381.1:c.4464C>G	XP_011520683.1:p.Ala1488=
XM_005255124.4:c.5172C>G	XP_005255181.1:p.Ala1724=
XM_005255125.4:c.4800C>G	XP_005255182.1:p.Ala1600=
XM_006720848.3:c.4956C>G	XP_006720911.1:p.Ala1652=
XM_011522381.2:c.4464C>G	XP_011520683.1:p.Ala1488=
XM_017022944.1:c.5211C>G	XP_016878433.1:p.Ala1737=
NM_004380.3:c.5217C>G MANE Select	NP_004371.2:p.Ala1739=