Canonical Allele Identifier: CA394549875

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3769323T>A , CM000678.2:g.3769323T>A	GRCh38
NC_000016.9:g.3819324T>A , CM000678.1:g.3819324T>A	GRCh37
NC_000016.8:g.3759325T>A	NCBI36
NG_009873.1:g.115798A>T
NG_009873.2:g.116391A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2911A>T MANE Select	NP_004371.2:p.Arg971Ter
ENST00000262367.10:c.2911A>T MANE Select	ENSP00000262367.5:p.Arg971Ter
NM_001079846.1:c.2797A>T	NP_001073315.1:p.Arg933Ter
NM_004380.2:c.2911A>T	NP_004371.2:p.Arg971Ter
ENST00000262367.9:c.2911A>T	ENSP00000262367.5:p.Arg971Ter
ENST00000382070.7:c.2797A>T	ENSP00000371502.3:p.Arg933Ter
ENST00000570939.2:c.1516A>T	ENSP00000461002.2:p.Arg506Ter
ENST00000573672.1:n.165A>T
XM_005255124.3:c.2866A>T	XP_005255181.1:p.Arg956Ter
XM_005255124.4:c.2866A>T	XP_005255181.1:p.Arg956Ter
XM_005255125.3:c.2494A>T	XP_005255182.1:p.Arg832Ter
XM_005255125.4:c.2494A>T	XP_005255182.1:p.Arg832Ter
XM_006720848.2:c.2911A>T	XP_006720911.1:p.Arg971Ter
XM_006720848.3:c.2911A>T	XP_006720911.1:p.Arg971Ter
XM_011522380.1:c.2857A>T	XP_011520682.1:p.Arg953Ter
XM_011522381.1:c.2158A>T	XP_011520683.1:p.Arg720Ter
XM_011522381.2:c.2158A>T	XP_011520683.1:p.Arg720Ter
XM_011522382.1:c.2911A>T	XP_011520684.1:p.Arg971Ter
XM_011522382.3:c.2911A>T	XP_011520684.1:p.Arg971Ter
XM_017022944.1:c.2905A>T	XP_016878433.1:p.Arg969Ter