Canonical Allele Identifier: CA16043514

Gene: CREBBP

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757288C>T , CM000678.2:g.3757288C>T	GRCh38
NC_000016.9:g.3807289C>T , CM000678.1:g.3807289C>T	GRCh37
NC_000016.8:g.3747290C>T	NCBI36
NG_009873.1:g.127833G>A
NG_009873.2:g.128426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3698G>A MANE Select	ENSP00000262367.5:p.Arg1233Lys
ENST00000262367.9:c.3698G>A	ENSP00000262367.5:p.Arg1233Lys
ENST00000382070.7:c.3584G>A	ENSP00000371502.3:p.Arg1195Lys
ENST00000570939.2:c.2303G>A	ENSP00000461002.2:p.Ser768Asn
ENST00000573517.6:c.4G>A
NM_001079846.1:c.3584G>A	NP_001073315.1:p.Arg1195Lys
NM_004380.2:c.3698G>A	NP_004371.2:p.Arg1233Lys
XM_005255124.3:c.3653G>A	XP_005255181.1:p.Arg1218Lys
XM_005255125.3:c.3281G>A	XP_005255182.1:p.Arg1094Lys
XM_006720848.2:c.3698G>A	XP_006720911.1:p.Arg1233Lys
XM_011522380.1:c.3644G>A	XP_011520682.1:p.Arg1215Lys
XM_011522381.1:c.2945G>A	XP_011520683.1:p.Arg982Lys
XM_011522382.1:c.3698G>A	XP_011520684.1:p.Arg1233Lys
XM_005255124.4:c.3653G>A	XP_005255181.1:p.Arg1218Lys
XM_005255125.4:c.3281G>A	XP_005255182.1:p.Arg1094Lys
XM_006720848.3:c.3698G>A	XP_006720911.1:p.Arg1233Lys
XM_011522381.2:c.2945G>A	XP_011520683.1:p.Arg982Lys
XM_011522382.3:c.3698G>A	XP_011520684.1:p.Arg1233Lys
XM_017022944.1:c.3692G>A	XP_016878433.1:p.Arg1231Lys
NM_004380.3:c.3698G>A MANE Select	NP_004371.2:p.Arg1233Lys