Canonical Allele Identifier: CA7869519

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736791G>A , CM000678.2:g.3736791G>A	GRCh38
NC_000016.9:g.3786792G>A , CM000678.1:g.3786792G>A	GRCh37
NC_000016.8:g.3726793G>A	NCBI36
NG_009873.1:g.148330C>T
NG_009873.2:g.148923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4419C>T MANE Select	ENSP00000262367.5:p.Ala1473=
ENST00000262367.9:c.4419C>T	ENSP00000262367.5:p.Ala1473=
ENST00000382070.7:c.4305C>T	ENSP00000371502.3:p.Ala1435=
ENST00000570939.2:c.3054C>T	ENSP00000461002.2:p.Ala1018=
ENST00000571763.5:n.209C>T
ENST00000574740.1:n.240C>T
ENST00000576720.1:n.3242C>T
NM_001079846.1:c.4305C>T	NP_001073315.1:p.Ala1435=
NM_004380.2:c.4419C>T	NP_004371.2:p.Ala1473=
XM_005255124.3:c.4374C>T	XP_005255181.1:p.Ala1458=
XM_005255125.3:c.4002C>T	XP_005255182.1:p.Ala1334=
XM_006720848.2:c.4158C>T	XP_006720911.1:p.Ala1386=
XM_011522380.1:c.4365C>T	XP_011520682.1:p.Ala1455=
XM_011522381.1:c.3666C>T	XP_011520683.1:p.Ala1222=
XM_005255124.4:c.4374C>T	XP_005255181.1:p.Ala1458=
XM_005255125.4:c.4002C>T	XP_005255182.1:p.Ala1334=
XM_006720848.3:c.4158C>T	XP_006720911.1:p.Ala1386=
XM_011522381.2:c.3666C>T	XP_011520683.1:p.Ala1222=
XM_017022944.1:c.4413C>T	XP_016878433.1:p.Ala1471=
NM_004380.3:c.4419C>T MANE Select	NP_004371.2:p.Ala1473=