Canonical Allele Identifier: CA493280074

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3739583-G-A
• MyVariant Identifiers: chr16:g.3789584G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739583G>A , CM000678.2:g.3739583G>A	GRCh38
NC_000016.9:g.3789584G>A , CM000678.1:g.3789584G>A	GRCh37
NC_000016.8:g.3729585G>A	NCBI36
NG_009873.1:g.145538C>T
NG_009873.2:g.146131C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4275C>T MANE Select	ENSP00000262367.5:p.Asn1425=
ENST00000262367.9:c.4275C>T	ENSP00000262367.5:p.Asn1425=
ENST00000382070.7:c.4161C>T	ENSP00000371502.3:p.Asn1387=
ENST00000570939.2:c.2910C>T	ENSP00000461002.2:p.Asn970=
ENST00000573517.6:c.581C>T
ENST00000574740.1:n.215+816C>T
ENST00000576720.1:n.3212C>T
NM_001079846.1:c.4161C>T	NP_001073315.1:p.Asn1387=
NM_004380.2:c.4275C>T	NP_004371.2:p.Asn1425=
XM_005255124.3:c.4230C>T	XP_005255181.1:p.Asn1410=
XM_005255125.3:c.3858C>T	XP_005255182.1:p.Asn1286=
XM_006720848.2:c.4133+816C>T	XP_006720911.1:n.4133+816C>T
XM_011522380.1:c.4221C>T	XP_011520682.1:p.Asn1407=
XM_011522381.1:c.3522C>T	XP_011520683.1:p.Asn1174=
XM_005255124.4:c.4230C>T	XP_005255181.1:p.Asn1410=
XM_005255125.4:c.3858C>T	XP_005255182.1:p.Asn1286=
XM_006720848.3:c.4133+816C>T	XP_006720911.1:n.4133+816C>T
XM_011522381.2:c.3522C>T	XP_011520683.1:p.Asn1174=
XM_017022944.1:c.4269C>T	XP_016878433.1:p.Asn1423=
NM_004380.3:c.4275C>T MANE Select	NP_004371.2:p.Asn1425=