Canonical Allele Identifier: CA394550567

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777964T>A (hg19) ; chr16:g.3727963T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727963T>A , CM000678.2:g.3727963T>A	GRCh38
NC_000016.9:g.3777964T>A , CM000678.1:g.3777964T>A	GRCh37
NC_000016.8:g.3717965T>A	NCBI36
NG_009873.1:g.157158A>T
NG_009873.2:g.157751A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7084A>T MANE Select	ENSP00000262367.5:p.Ser2362Cys
ENST00000262367.9:c.7084A>T	ENSP00000262367.5:p.Ser2362Cys
ENST00000382070.7:c.6970A>T	ENSP00000371502.3:p.Ser2324Cys
NM_001079846.1:c.6970A>T	NP_001073315.1:p.Ser2324Cys
NM_004380.2:c.7084A>T	NP_004371.2:p.Ser2362Cys
XM_005255124.3:c.7039A>T	XP_005255181.1:p.Ser2347Cys
XM_005255125.3:c.6667A>T	XP_005255182.1:p.Ser2223Cys
XM_006720848.2:c.6823A>T	XP_006720911.1:p.Ser2275Cys
XM_011522380.1:c.7030A>T	XP_011520682.1:p.Ser2344Cys
XM_011522381.1:c.6331A>T	XP_011520683.1:p.Ser2111Cys
XM_005255124.4:c.7039A>T	XP_005255181.1:p.Ser2347Cys
XM_005255125.4:c.6667A>T	XP_005255182.1:p.Ser2223Cys
XM_006720848.3:c.6823A>T	XP_006720911.1:p.Ser2275Cys
XM_011522381.2:c.6331A>T	XP_011520683.1:p.Ser2111Cys
XM_017022944.1:c.7078A>T	XP_016878433.1:p.Ser2360Cys
NM_004380.3:c.7084A>T MANE Select	NP_004371.2:p.Ser2362Cys