Canonical Allele Identifier: CA7869911

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767765C>A , CM000678.2:g.3767765C>A	GRCh38
NC_000016.9:g.3817766C>A , CM000678.1:g.3817766C>A	GRCh37
NC_000016.8:g.3757767C>A	NCBI36
NG_009873.1:g.117356G>T
NG_009873.2:g.117949G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3205G>T MANE Select	NP_004371.2:p.Gly1069Cys
ENST00000262367.10:c.3205G>T MANE Select	ENSP00000262367.5:p.Gly1069Cys
NM_001079846.1:c.3091G>T	NP_001073315.1:p.Gly1031Cys
NM_004380.2:c.3205G>T	NP_004371.2:p.Gly1069Cys
ENST00000262367.9:c.3205G>T	ENSP00000262367.5:p.Gly1069Cys
ENST00000382070.7:c.3091G>T	ENSP00000371502.3:p.Gly1031Cys
ENST00000570939.2:c.1810G>T	ENSP00000461002.2:p.Gly604Cys
ENST00000573672.1:n.459G>T
XM_005255124.3:c.3160G>T	XP_005255181.1:p.Gly1054Cys
XM_005255124.4:c.3160G>T	XP_005255181.1:p.Gly1054Cys
XM_005255125.3:c.2788G>T	XP_005255182.1:p.Gly930Cys
XM_005255125.4:c.2788G>T	XP_005255182.1:p.Gly930Cys
XM_006720848.2:c.3205G>T	XP_006720911.1:p.Gly1069Cys
XM_006720848.3:c.3205G>T	XP_006720911.1:p.Gly1069Cys
XM_011522380.1:c.3151G>T	XP_011520682.1:p.Gly1051Cys
XM_011522381.1:c.2452G>T	XP_011520683.1:p.Gly818Cys
XM_011522381.2:c.2452G>T	XP_011520683.1:p.Gly818Cys
XM_011522382.1:c.3205G>T	XP_011520684.1:p.Gly1069Cys
XM_011522382.3:c.3205G>T	XP_011520684.1:p.Gly1069Cys
XM_017022944.1:c.3199G>T	XP_016878433.1:p.Gly1067Cys