Canonical Allele Identifier: CA493394518

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3807906T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757905T>A , CM000678.2:g.3757905T>A	GRCh38
NC_000016.9:g.3807906T>A , CM000678.1:g.3807906T>A	GRCh37
NC_000016.8:g.3747907T>A	NCBI36
NG_009873.1:g.127216A>T
NG_009873.2:g.127809A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3513A>T MANE Select	ENSP00000262367.5:p.Thr1171=
ENST00000262367.9:c.3513A>T	ENSP00000262367.5:p.Thr1171=
ENST00000382070.7:c.3399A>T	ENSP00000371502.3:p.Thr1133=
ENST00000570939.2:c.2118A>T	ENSP00000461002.2:p.Thr706=
NM_001079846.1:c.3399A>T	NP_001073315.1:p.Thr1133=
NM_004380.2:c.3513A>T	NP_004371.2:p.Thr1171=
XM_005255124.3:c.3468A>T	XP_005255181.1:p.Thr1156=
XM_005255125.3:c.3096A>T	XP_005255182.1:p.Thr1032=
XM_006720848.2:c.3513A>T	XP_006720911.1:p.Thr1171=
XM_011522380.1:c.3459A>T	XP_011520682.1:p.Thr1153=
XM_011522381.1:c.2760A>T	XP_011520683.1:p.Thr920=
XM_011522382.1:c.3513A>T	XP_011520684.1:p.Thr1171=
XM_005255124.4:c.3468A>T	XP_005255181.1:p.Thr1156=
XM_005255125.4:c.3096A>T	XP_005255182.1:p.Thr1032=
XM_006720848.3:c.3513A>T	XP_006720911.1:p.Thr1171=
XM_011522381.2:c.2760A>T	XP_011520683.1:p.Thr920=
XM_011522382.3:c.3513A>T	XP_011520684.1:p.Thr1171=
XM_017022944.1:c.3507A>T	XP_016878433.1:p.Thr1169=
NM_004380.3:c.3513A>T MANE Select	NP_004371.2:p.Thr1171=