Canonical Allele Identifier: CA394554267

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596784872
• gnomAD v3: 16-3728956-G-A
• gnomAD v4: 16-3728956-G-A
• MyVariant Identifiers: chr16:g.3778957G>A (hg19) ; chr16:g.3728956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728956G>A , CM000678.2:g.3728956G>A	GRCh38
NC_000016.9:g.3778957G>A , CM000678.1:g.3778957G>A	GRCh37
NC_000016.8:g.3718958G>A	NCBI36
NG_009873.1:g.156165C>T
NG_009873.2:g.156758C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6091C>T MANE Select	ENSP00000262367.5:p.Pro2031Ser
ENST00000262367.9:c.6091C>T	ENSP00000262367.5:p.Pro2031Ser
ENST00000382070.7:c.5977C>T	ENSP00000371502.3:p.Pro1993Ser
NM_001079846.1:c.5977C>T	NP_001073315.1:p.Pro1993Ser
NM_004380.2:c.6091C>T	NP_004371.2:p.Pro2031Ser
XM_005255124.3:c.6046C>T	XP_005255181.1:p.Pro2016Ser
XM_005255125.3:c.5674C>T	XP_005255182.1:p.Pro1892Ser
XM_006720848.2:c.5830C>T	XP_006720911.1:p.Pro1944Ser
XM_011522380.1:c.6037C>T	XP_011520682.1:p.Pro2013Ser
XM_011522381.1:c.5338C>T	XP_011520683.1:p.Pro1780Ser
XM_005255124.4:c.6046C>T	XP_005255181.1:p.Pro2016Ser
XM_005255125.4:c.5674C>T	XP_005255182.1:p.Pro1892Ser
XM_006720848.3:c.5830C>T	XP_006720911.1:p.Pro1944Ser
XM_011522381.2:c.5338C>T	XP_011520683.1:p.Pro1780Ser
XM_017022944.1:c.6085C>T	XP_016878433.1:p.Pro2029Ser
NM_004380.3:c.6091C>T MANE Select	NP_004371.2:p.Pro2031Ser