Canonical Allele Identifier: CA394550594

Gene: CREBBP

Linked Data

• dbSNP Id: rs1257630431
• MyVariant Identifiers: chr16:g.3777973G>T (hg19) ; chr16:g.3727972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727972G>T , CM000678.2:g.3727972G>T	GRCh38
NC_000016.9:g.3777973G>T , CM000678.1:g.3777973G>T	GRCh37
NC_000016.8:g.3717974G>T	NCBI36
NG_009873.1:g.157149C>A
NG_009873.2:g.157742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7075C>A MANE Select	ENSP00000262367.5:p.Pro2359Thr
ENST00000262367.9:c.7075C>A	ENSP00000262367.5:p.Pro2359Thr
ENST00000382070.7:c.6961C>A	ENSP00000371502.3:p.Pro2321Thr
NM_001079846.1:c.6961C>A	NP_001073315.1:p.Pro2321Thr
NM_004380.2:c.7075C>A	NP_004371.2:p.Pro2359Thr
XM_005255124.3:c.7030C>A	XP_005255181.1:p.Pro2344Thr
XM_005255125.3:c.6658C>A	XP_005255182.1:p.Pro2220Thr
XM_006720848.2:c.6814C>A	XP_006720911.1:p.Pro2272Thr
XM_011522380.1:c.7021C>A	XP_011520682.1:p.Pro2341Thr
XM_011522381.1:c.6322C>A	XP_011520683.1:p.Pro2108Thr
XM_005255124.4:c.7030C>A	XP_005255181.1:p.Pro2344Thr
XM_005255125.4:c.6658C>A	XP_005255182.1:p.Pro2220Thr
XM_006720848.3:c.6814C>A	XP_006720911.1:p.Pro2272Thr
XM_011522381.2:c.6322C>A	XP_011520683.1:p.Pro2108Thr
XM_017022944.1:c.7069C>A	XP_016878433.1:p.Pro2357Thr
NM_004380.3:c.7075C>A MANE Select	NP_004371.2:p.Pro2359Thr