Canonical Allele Identifier: CA394569191

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3758043A>T , CM000678.2:g.3758043A>T	GRCh38
NC_000016.9:g.3808044A>T , CM000678.1:g.3808044A>T	GRCh37
NC_000016.8:g.3748045A>T	NCBI36
NG_009873.1:g.127078T>A
NG_009873.2:g.127671T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3375T>A MANE Select	NP_004371.2:p.Tyr1125Ter
ENST00000262367.10:c.3375T>A MANE Select	ENSP00000262367.5:p.Tyr1125Ter
NM_001079846.1:c.3261T>A	NP_001073315.1:p.Tyr1087Ter
NM_004380.2:c.3375T>A	NP_004371.2:p.Tyr1125Ter
ENST00000262367.9:c.3375T>A	ENSP00000262367.5:p.Tyr1125Ter
ENST00000382070.7:c.3261T>A	ENSP00000371502.3:p.Tyr1087Ter
ENST00000570939.2:c.1980T>A	ENSP00000461002.2:p.Tyr660Ter
XM_005255124.3:c.3330T>A	XP_005255181.1:p.Tyr1110Ter
XM_005255124.4:c.3330T>A	XP_005255181.1:p.Tyr1110Ter
XM_005255125.3:c.2958T>A	XP_005255182.1:p.Tyr986Ter
XM_005255125.4:c.2958T>A	XP_005255182.1:p.Tyr986Ter
XM_006720848.2:c.3375T>A	XP_006720911.1:p.Tyr1125Ter
XM_006720848.3:c.3375T>A	XP_006720911.1:p.Tyr1125Ter
XM_011522380.1:c.3321T>A	XP_011520682.1:p.Tyr1107Ter
XM_011522381.1:c.2622T>A	XP_011520683.1:p.Tyr874Ter
XM_011522381.2:c.2622T>A	XP_011520683.1:p.Tyr874Ter
XM_011522382.1:c.3375T>A	XP_011520684.1:p.Tyr1125Ter
XM_011522382.3:c.3375T>A	XP_011520684.1:p.Tyr1125Ter
XM_017022944.1:c.3369T>A	XP_016878433.1:p.Tyr1123Ter