Canonical Allele Identifier: CA158199

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728389C>T , CM000678.2:g.3728389C>T	GRCh38
NC_000016.9:g.3778390C>T , CM000678.1:g.3778390C>T	GRCh37
NC_000016.8:g.3718391C>T	NCBI36
NG_009873.1:g.156732G>A
NG_009873.2:g.157325G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6658G>A MANE Select	NP_004371.2:p.Gly2220Ser
ENST00000262367.10:c.6658G>A MANE Select	ENSP00000262367.5:p.Gly2220Ser
NM_001079846.1:c.6544G>A	NP_001073315.1:p.Gly2182Ser
NM_004380.2:c.6658G>A	NP_004371.2:p.Gly2220Ser
ENST00000262367.9:c.6658G>A	ENSP00000262367.5:p.Gly2220Ser
ENST00000382070.7:c.6544G>A	ENSP00000371502.3:p.Gly2182Ser
XM_005255124.3:c.6613G>A	XP_005255181.1:p.Gly2205Ser
XM_005255124.4:c.6613G>A	XP_005255181.1:p.Gly2205Ser
XM_005255125.3:c.6241G>A	XP_005255182.1:p.Gly2081Ser
XM_005255125.4:c.6241G>A	XP_005255182.1:p.Gly2081Ser
XM_006720848.2:c.6397G>A	XP_006720911.1:p.Gly2133Ser
XM_006720848.3:c.6397G>A	XP_006720911.1:p.Gly2133Ser
XM_011522380.1:c.6604G>A	XP_011520682.1:p.Gly2202Ser
XM_011522381.1:c.5905G>A	XP_011520683.1:p.Gly1969Ser
XM_011522381.2:c.5905G>A	XP_011520683.1:p.Gly1969Ser
XM_017022944.1:c.6652G>A	XP_016878433.1:p.Gly2218Ser