Canonical Allele Identifier: CA16608188

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3745302G>A , CM000678.2:g.3745302G>A	GRCh38
NC_000016.9:g.3795303G>A , CM000678.1:g.3795303G>A	GRCh37
NC_000016.8:g.3735304G>A	NCBI36
NG_009873.1:g.139819C>T
NG_009873.2:g.140412C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3889C>T MANE Select	NP_004371.2:p.His1297Tyr
ENST00000262367.10:c.3889C>T MANE Select	ENSP00000262367.5:p.His1297Tyr
NM_001079846.1:c.3775C>T	NP_001073315.1:p.His1259Tyr
NM_004380.2:c.3889C>T	NP_004371.2:p.His1297Tyr
ENST00000262367.9:c.3889C>T	ENSP00000262367.5:p.His1297Tyr
ENST00000382070.7:c.3775C>T	ENSP00000371502.3:p.His1259Tyr
ENST00000570939.2:c.2524C>T	ENSP00000461002.2:p.His842Tyr
ENST00000572569.1:n.353C>T
ENST00000573517.6:c.195C>T
XM_005255124.3:c.3844C>T	XP_005255181.1:p.His1282Tyr
XM_005255124.4:c.3844C>T	XP_005255181.1:p.His1282Tyr
XM_005255125.3:c.3472C>T	XP_005255182.1:p.His1158Tyr
XM_005255125.4:c.3472C>T	XP_005255182.1:p.His1158Tyr
XM_006720848.2:c.3889C>T	XP_006720911.1:p.His1297Tyr
XM_006720848.3:c.3889C>T	XP_006720911.1:p.His1297Tyr
XM_011522380.1:c.3835C>T	XP_011520682.1:p.His1279Tyr
XM_011522381.1:c.3136C>T	XP_011520683.1:p.His1046Tyr
XM_011522381.2:c.3136C>T	XP_011520683.1:p.His1046Tyr
XM_017022944.1:c.3883C>T	XP_016878433.1:p.His1295Tyr