Canonical Allele Identifier: CA7869138

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728707C>T , CM000678.2:g.3728707C>T	GRCh38
NC_000016.9:g.3778708C>T , CM000678.1:g.3778708C>T	GRCh37
NC_000016.8:g.3718709C>T	NCBI36
NG_009873.1:g.156414G>A
NG_009873.2:g.157007G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6340G>A MANE Select	NP_004371.2:p.Gly2114Ser
ENST00000262367.10:c.6340G>A MANE Select	ENSP00000262367.5:p.Gly2114Ser
NM_001079846.1:c.6226G>A	NP_001073315.1:p.Gly2076Ser
NM_004380.2:c.6340G>A	NP_004371.2:p.Gly2114Ser
ENST00000262367.9:c.6340G>A	ENSP00000262367.5:p.Gly2114Ser
ENST00000382070.7:c.6226G>A	ENSP00000371502.3:p.Gly2076Ser
XM_005255124.3:c.6295G>A	XP_005255181.1:p.Gly2099Ser
XM_005255124.4:c.6295G>A	XP_005255181.1:p.Gly2099Ser
XM_005255125.3:c.5923G>A	XP_005255182.1:p.Gly1975Ser
XM_005255125.4:c.5923G>A	XP_005255182.1:p.Gly1975Ser
XM_006720848.2:c.6079G>A	XP_006720911.1:p.Gly2027Ser
XM_006720848.3:c.6079G>A	XP_006720911.1:p.Gly2027Ser
XM_011522380.1:c.6286G>A	XP_011520682.1:p.Gly2096Ser
XM_011522381.1:c.5587G>A	XP_011520683.1:p.Gly1863Ser
XM_011522381.2:c.5587G>A	XP_011520683.1:p.Gly1863Ser
XM_017022944.1:c.6334G>A	XP_016878433.1:p.Gly2112Ser