Canonical Allele Identifier: CA158176

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757375T>A , CM000678.2:g.3757375T>A	GRCh38
NC_000016.9:g.3807376T>A , CM000678.1:g.3807376T>A	GRCh37
NC_000016.8:g.3747377T>A	NCBI36
NG_009873.1:g.127746A>T
NG_009873.2:g.128339A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3611A>T MANE Select	NP_004371.2:p.Tyr1204Phe
ENST00000262367.10:c.3611A>T MANE Select	ENSP00000262367.5:p.Tyr1204Phe
NM_001079846.1:c.3497A>T	NP_001073315.1:p.Tyr1166Phe
NM_004380.2:c.3611A>T	NP_004371.2:p.Tyr1204Phe
ENST00000262367.9:c.3611A>T	ENSP00000262367.5:p.Tyr1204Phe
ENST00000382070.7:c.3497A>T	ENSP00000371502.3:p.Tyr1166Phe
ENST00000570939.2:c.2216A>T	ENSP00000461002.2:p.Tyr739Phe
XM_005255124.3:c.3566A>T	XP_005255181.1:p.Tyr1189Phe
XM_005255124.4:c.3566A>T	XP_005255181.1:p.Tyr1189Phe
XM_005255125.3:c.3194A>T	XP_005255182.1:p.Tyr1065Phe
XM_005255125.4:c.3194A>T	XP_005255182.1:p.Tyr1065Phe
XM_006720848.2:c.3611A>T	XP_006720911.1:p.Tyr1204Phe
XM_006720848.3:c.3611A>T	XP_006720911.1:p.Tyr1204Phe
XM_011522380.1:c.3557A>T	XP_011520682.1:p.Tyr1186Phe
XM_011522381.1:c.2858A>T	XP_011520683.1:p.Tyr953Phe
XM_011522381.2:c.2858A>T	XP_011520683.1:p.Tyr953Phe
XM_011522382.1:c.3611A>T	XP_011520684.1:p.Tyr1204Phe
XM_011522382.3:c.3611A>T	XP_011520684.1:p.Tyr1204Phe
XM_017022944.1:c.3605A>T	XP_016878433.1:p.Tyr1202Phe