Canonical Allele Identifier: CA7868936

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727852G>A , CM000678.2:g.3727852G>A	GRCh38
NC_000016.9:g.3777853G>A , CM000678.1:g.3777853G>A	GRCh37
NC_000016.8:g.3717854G>A	NCBI36
NG_009873.1:g.157269C>T
NG_009873.2:g.157862C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.7195C>T MANE Select	NP_004371.2:p.His2399Tyr
ENST00000262367.10:c.7195C>T MANE Select	ENSP00000262367.5:p.His2399Tyr
NM_001079846.1:c.7081C>T	NP_001073315.1:p.His2361Tyr
NM_004380.2:c.7195C>T	NP_004371.2:p.His2399Tyr
ENST00000262367.9:c.7195C>T	ENSP00000262367.5:p.His2399Tyr
ENST00000382070.7:c.7081C>T	ENSP00000371502.3:p.His2361Tyr
XM_005255124.3:c.7150C>T	XP_005255181.1:p.His2384Tyr
XM_005255124.4:c.7150C>T	XP_005255181.1:p.His2384Tyr
XM_005255125.3:c.6778C>T	XP_005255182.1:p.His2260Tyr
XM_005255125.4:c.6778C>T	XP_005255182.1:p.His2260Tyr
XM_006720848.2:c.6934C>T	XP_006720911.1:p.His2312Tyr
XM_006720848.3:c.6934C>T	XP_006720911.1:p.His2312Tyr
XM_011522380.1:c.7141C>T	XP_011520682.1:p.His2381Tyr
XM_011522381.1:c.6442C>T	XP_011520683.1:p.His2148Tyr
XM_011522381.2:c.6442C>T	XP_011520683.1:p.His2148Tyr
XM_017022944.1:c.7189C>T	XP_016878433.1:p.His2397Tyr