Canonical Allele Identifier: CA493280112

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3789647G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739646G>T , CM000678.2:g.3739646G>T	GRCh38
NC_000016.9:g.3789647G>T , CM000678.1:g.3789647G>T	GRCh37
NC_000016.8:g.3729648G>T	NCBI36
NG_009873.1:g.145475C>A
NG_009873.2:g.146068C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4212C>A MANE Select	ENSP00000262367.5:p.Gly1404=
ENST00000262367.9:c.4212C>A	ENSP00000262367.5:p.Gly1404=
ENST00000382070.7:c.4098C>A	ENSP00000371502.3:p.Gly1366=
ENST00000570939.2:c.2847C>A	ENSP00000461002.2:p.Gly949=
ENST00000573517.6:c.518C>A
ENST00000574740.1:n.215+753C>A
ENST00000576720.1:n.3149C>A
NM_001079846.1:c.4098C>A	NP_001073315.1:p.Gly1366=
NM_004380.2:c.4212C>A	NP_004371.2:p.Gly1404=
XM_005255124.3:c.4167C>A	XP_005255181.1:p.Gly1389=
XM_005255125.3:c.3795C>A	XP_005255182.1:p.Gly1265=
XM_006720848.2:c.4133+753C>A	XP_006720911.1:n.4133+753C>A
XM_011522380.1:c.4158C>A	XP_011520682.1:p.Gly1386=
XM_011522381.1:c.3459C>A	XP_011520683.1:p.Gly1153=
XM_005255124.4:c.4167C>A	XP_005255181.1:p.Gly1389=
XM_005255125.4:c.3795C>A	XP_005255182.1:p.Gly1265=
XM_006720848.3:c.4133+753C>A	XP_006720911.1:n.4133+753C>A
XM_011522381.2:c.3459C>A	XP_011520683.1:p.Gly1153=
XM_017022944.1:c.4206C>A	XP_016878433.1:p.Gly1402=
NM_004380.3:c.4212C>A MANE Select	NP_004371.2:p.Gly1404=