Canonical Allele Identifier: CA7870290

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778068G>A , CM000678.2:g.3778068G>A	GRCh38
NC_000016.9:g.3828069G>A , CM000678.1:g.3828069G>A	GRCh37
NC_000016.8:g.3768070G>A	NCBI36
NG_009873.1:g.107053C>T
NG_009873.2:g.107646C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2056C>T MANE Select	NP_004371.2:p.Pro686Ser
ENST00000262367.10:c.2056C>T MANE Select	ENSP00000262367.5:p.Pro686Ser
NM_001079846.1:c.1942C>T	NP_001073315.1:p.Pro648Ser
NM_004380.2:c.2056C>T	NP_004371.2:p.Pro686Ser
ENST00000262367.9:c.2056C>T	ENSP00000262367.5:p.Pro686Ser
ENST00000382070.7:c.1942C>T	ENSP00000371502.3:p.Pro648Ser
ENST00000570939.2:c.661C>T	ENSP00000461002.2:p.Pro221Ser
ENST00000571826.5:c.105C>T
ENST00000572134.1:c.369C>T
ENST00000634839.1:n.218C>T
XM_005255124.3:c.2056C>T	XP_005255181.1:p.Pro686Ser
XM_005255124.4:c.2056C>T	XP_005255181.1:p.Pro686Ser
XM_005255125.3:c.2056C>T	XP_005255182.1:p.Pro686Ser
XM_005255125.4:c.2056C>T	XP_005255182.1:p.Pro686Ser
XM_006720848.2:c.2056C>T	XP_006720911.1:p.Pro686Ser
XM_006720848.3:c.2056C>T	XP_006720911.1:p.Pro686Ser
XM_011522380.1:c.2002C>T	XP_011520682.1:p.Pro668Ser
XM_011522381.1:c.1303C>T	XP_011520683.1:p.Pro435Ser
XM_011522381.2:c.1303C>T	XP_011520683.1:p.Pro435Ser
XM_011522382.1:c.2056C>T	XP_011520684.1:p.Pro686Ser
XM_011522382.3:c.2056C>T	XP_011520684.1:p.Pro686Ser
XM_017022944.1:c.2056C>T	XP_016878433.1:p.Pro686Ser