Canonical Allele Identifier: CA10604228

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3769257G>A , CM000678.2:g.3769257G>A	GRCh38
NC_000016.9:g.3819258G>A , CM000678.1:g.3819258G>A	GRCh37
NC_000016.8:g.3759259G>A	NCBI36
NG_009873.1:g.115864C>T
NG_009873.2:g.116457C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2977C>T MANE Select	NP_004371.2:p.Pro993Ser
ENST00000262367.10:c.2977C>T MANE Select	ENSP00000262367.5:p.Pro993Ser
NM_001079846.1:c.2863C>T	NP_001073315.1:p.Pro955Ser
NM_004380.2:c.2977C>T	NP_004371.2:p.Pro993Ser
ENST00000262367.9:c.2977C>T	ENSP00000262367.5:p.Pro993Ser
ENST00000382070.7:c.2863C>T	ENSP00000371502.3:p.Pro955Ser
ENST00000570939.2:c.1582C>T	ENSP00000461002.2:p.Pro528Ser
ENST00000573672.1:n.231C>T
XM_005255124.3:c.2932C>T	XP_005255181.1:p.Pro978Ser
XM_005255124.4:c.2932C>T	XP_005255181.1:p.Pro978Ser
XM_005255125.3:c.2560C>T	XP_005255182.1:p.Pro854Ser
XM_005255125.4:c.2560C>T	XP_005255182.1:p.Pro854Ser
XM_006720848.2:c.2977C>T	XP_006720911.1:p.Pro993Ser
XM_006720848.3:c.2977C>T	XP_006720911.1:p.Pro993Ser
XM_011522380.1:c.2923C>T	XP_011520682.1:p.Pro975Ser
XM_011522381.1:c.2224C>T	XP_011520683.1:p.Pro742Ser
XM_011522381.2:c.2224C>T	XP_011520683.1:p.Pro742Ser
XM_011522382.1:c.2977C>T	XP_011520684.1:p.Pro993Ser
XM_011522382.3:c.2977C>T	XP_011520684.1:p.Pro993Ser
XM_017022944.1:c.2971C>T	XP_016878433.1:p.Pro991Ser