Canonical Allele Identifier: CA394565291

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3790443T>A (hg19) ; chr16:g.3740442T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740442T>A , CM000678.2:g.3740442T>A	GRCh38
NC_000016.9:g.3790443T>A , CM000678.1:g.3790443T>A	GRCh37
NC_000016.8:g.3730444T>A	NCBI36
NG_009873.1:g.144679A>T
NG_009873.2:g.145272A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4090A>T MANE Select	ENSP00000262367.5:p.Ser1364Cys
ENST00000262367.9:c.4090A>T	ENSP00000262367.5:p.Ser1364Cys
ENST00000382070.7:c.3976A>T	ENSP00000371502.3:p.Ser1326Cys
ENST00000570939.2:c.2725A>T	ENSP00000461002.2:p.Ser909Cys
ENST00000573517.6:c.396A>T
ENST00000574740.1:n.172A>T
ENST00000576720.1:n.3027A>T
NM_001079846.1:c.3976A>T	NP_001073315.1:p.Ser1326Cys
NM_004380.2:c.4090A>T	NP_004371.2:p.Ser1364Cys
XM_005255124.3:c.4045A>T	XP_005255181.1:p.Ser1349Cys
XM_005255125.3:c.3673A>T	XP_005255182.1:p.Ser1225Cys
XM_006720848.2:c.4090A>T	XP_006720911.1:p.Ser1364Cys
XM_011522380.1:c.4036A>T	XP_011520682.1:p.Ser1346Cys
XM_011522381.1:c.3337A>T	XP_011520683.1:p.Ser1113Cys
XM_005255124.4:c.4045A>T	XP_005255181.1:p.Ser1349Cys
XM_005255125.4:c.3673A>T	XP_005255182.1:p.Ser1225Cys
XM_006720848.3:c.4090A>T	XP_006720911.1:p.Ser1364Cys
XM_011522381.2:c.3337A>T	XP_011520683.1:p.Ser1113Cys
XM_017022944.1:c.4084A>T	XP_016878433.1:p.Ser1362Cys
NM_004380.3:c.4090A>T MANE Select	NP_004371.2:p.Ser1364Cys