Canonical Allele Identifier: CA7869901

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767720T>A , CM000678.2:g.3767720T>A	GRCh38
NC_000016.9:g.3817721T>A , CM000678.1:g.3817721T>A	GRCh37
NC_000016.8:g.3757722T>A	NCBI36
NG_009873.1:g.117401A>T
NG_009873.2:g.117994A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3250A>T MANE Select	NP_004371.2:p.Ile1084Phe
ENST00000262367.10:c.3250A>T MANE Select	ENSP00000262367.5:p.Ile1084Phe
NM_001079846.1:c.3136A>T	NP_001073315.1:p.Ile1046Phe
NM_004380.2:c.3250A>T	NP_004371.2:p.Ile1084Phe
ENST00000262367.9:c.3250A>T	ENSP00000262367.5:p.Ile1084Phe
ENST00000382070.7:c.3136A>T	ENSP00000371502.3:p.Ile1046Phe
ENST00000570939.2:c.1855A>T	ENSP00000461002.2:p.Ile619Phe
ENST00000573672.1:n.504A>T
XM_005255124.3:c.3205A>T	XP_005255181.1:p.Ile1069Phe
XM_005255124.4:c.3205A>T	XP_005255181.1:p.Ile1069Phe
XM_005255125.3:c.2833A>T	XP_005255182.1:p.Ile945Phe
XM_005255125.4:c.2833A>T	XP_005255182.1:p.Ile945Phe
XM_006720848.2:c.3250A>T	XP_006720911.1:p.Ile1084Phe
XM_006720848.3:c.3250A>T	XP_006720911.1:p.Ile1084Phe
XM_011522380.1:c.3196A>T	XP_011520682.1:p.Ile1066Phe
XM_011522381.1:c.2497A>T	XP_011520683.1:p.Ile833Phe
XM_011522381.2:c.2497A>T	XP_011520683.1:p.Ile833Phe
XM_011522382.1:c.3250A>T	XP_011520684.1:p.Ile1084Phe
XM_011522382.3:c.3250A>T	XP_011520684.1:p.Ile1084Phe
XM_017022944.1:c.3244A>T	XP_016878433.1:p.Ile1082Phe