Canonical Allele Identifier: CA2573151981

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731177G>A , CM000678.2:g.3731177G>A	GRCh38
NC_000016.9:g.3781178G>A , CM000678.1:g.3781178G>A	GRCh37
NC_000016.8:g.3721179G>A	NCBI36
NG_009873.1:g.153944C>T
NG_009873.2:g.154537C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5172+15C>T MANE Select	NP_004371.2:n.5172+15C>T
ENST00000262367.10:c.5172+15C>T MANE Select	ENSP00000262367.5:n.5172+15C>T
NM_001079846.1:c.5058+15C>T	NP_001073315.1:n.5058+15C>T
NM_004380.2:c.5172+15C>T	NP_004371.2:n.5172+15C>T
ENST00000262367.9:c.5172+15C>T	ENSP00000262367.5:n.5172+15C>T
ENST00000382070.7:c.5058+15C>T	ENSP00000371502.3:n.5058+15C>T
ENST00000637492.1:c.59+15C>T
XM_005255124.3:c.5127+15C>T	XP_005255181.1:n.5127+15C>T
XM_005255124.4:c.5127+15C>T	XP_005255181.1:n.5127+15C>T
XM_005255125.3:c.4755+15C>T	XP_005255182.1:n.4755+15C>T
XM_005255125.4:c.4755+15C>T	XP_005255182.1:n.4755+15C>T
XM_006720848.2:c.4911+15C>T	XP_006720911.1:n.4911+15C>T
XM_006720848.3:c.4911+15C>T	XP_006720911.1:n.4911+15C>T
XM_011522380.1:c.5118+15C>T	XP_011520682.1:n.5118+15C>T
XM_011522381.1:c.4419+15C>T	XP_011520683.1:n.4419+15C>T
XM_011522381.2:c.4419+15C>T	XP_011520683.1:n.4419+15C>T
XM_017022944.1:c.5166+15C>T	XP_016878433.1:n.5166+15C>T