Canonical Allele Identifier: CA7869102

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728590C>T , CM000678.2:g.3728590C>T	GRCh38
NC_000016.9:g.3778591C>T , CM000678.1:g.3778591C>T	GRCh37
NC_000016.8:g.3718592C>T	NCBI36
NG_009873.1:g.156531G>A
NG_009873.2:g.157124G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6457G>A MANE Select	NP_004371.2:p.Gly2153Ser
ENST00000262367.10:c.6457G>A MANE Select	ENSP00000262367.5:p.Gly2153Ser
NM_001079846.1:c.6343G>A	NP_001073315.1:p.Gly2115Ser
NM_004380.2:c.6457G>A	NP_004371.2:p.Gly2153Ser
ENST00000262367.9:c.6457G>A	ENSP00000262367.5:p.Gly2153Ser
ENST00000382070.7:c.6343G>A	ENSP00000371502.3:p.Gly2115Ser
XM_005255124.3:c.6412G>A	XP_005255181.1:p.Gly2138Ser
XM_005255124.4:c.6412G>A	XP_005255181.1:p.Gly2138Ser
XM_005255125.3:c.6040G>A	XP_005255182.1:p.Gly2014Ser
XM_005255125.4:c.6040G>A	XP_005255182.1:p.Gly2014Ser
XM_006720848.2:c.6196G>A	XP_006720911.1:p.Gly2066Ser
XM_006720848.3:c.6196G>A	XP_006720911.1:p.Gly2066Ser
XM_011522380.1:c.6403G>A	XP_011520682.1:p.Gly2135Ser
XM_011522381.1:c.5704G>A	XP_011520683.1:p.Gly1902Ser
XM_011522381.2:c.5704G>A	XP_011520683.1:p.Gly1902Ser
XM_017022944.1:c.6451G>A	XP_016878433.1:p.Gly2151Ser