Canonical Allele Identifier: CA394571000

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767873T>A , CM000678.2:g.3767873T>A	GRCh38
NC_000016.9:g.3817874T>A , CM000678.1:g.3817874T>A	GRCh37
NC_000016.8:g.3757875T>A	NCBI36
NG_009873.1:g.117248A>T
NG_009873.2:g.117841A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3097A>T MANE Select	NP_004371.2:p.Lys1033Ter
ENST00000262367.10:c.3097A>T MANE Select	ENSP00000262367.5:p.Lys1033Ter
NM_001079846.1:c.2983A>T	NP_001073315.1:p.Lys995Ter
NM_004380.2:c.3097A>T	NP_004371.2:p.Lys1033Ter
ENST00000262367.9:c.3097A>T	ENSP00000262367.5:p.Lys1033Ter
ENST00000382070.7:c.2983A>T	ENSP00000371502.3:p.Lys995Ter
ENST00000570939.2:c.1702A>T	ENSP00000461002.2:p.Lys568Ter
ENST00000573672.1:n.351A>T
XM_005255124.3:c.3052A>T	XP_005255181.1:p.Lys1018Ter
XM_005255124.4:c.3052A>T	XP_005255181.1:p.Lys1018Ter
XM_005255125.3:c.2680A>T	XP_005255182.1:p.Lys894Ter
XM_005255125.4:c.2680A>T	XP_005255182.1:p.Lys894Ter
XM_006720848.2:c.3097A>T	XP_006720911.1:p.Lys1033Ter
XM_006720848.3:c.3097A>T	XP_006720911.1:p.Lys1033Ter
XM_011522380.1:c.3043A>T	XP_011520682.1:p.Lys1015Ter
XM_011522381.1:c.2344A>T	XP_011520683.1:p.Lys782Ter
XM_011522381.2:c.2344A>T	XP_011520683.1:p.Lys782Ter
XM_011522382.1:c.3097A>T	XP_011520684.1:p.Lys1033Ter
XM_011522382.3:c.3097A>T	XP_011520684.1:p.Lys1033Ter
XM_017022944.1:c.3091A>T	XP_016878433.1:p.Lys1031Ter