Canonical Allele Identifier: CA394568097

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3751786C>T , CM000678.2:g.3751786C>T	GRCh38
NC_000016.9:g.3801787C>T , CM000678.1:g.3801787C>T	GRCh37
NC_000016.8:g.3741788C>T	NCBI36
NG_009873.1:g.133335G>A
NG_009873.2:g.133928G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3719G>A MANE Select	NP_004371.2:p.Cys1240Tyr
ENST00000262367.10:c.3719G>A MANE Select	ENSP00000262367.5:p.Cys1240Tyr
NM_001079846.1:c.3605G>A	NP_001073315.1:p.Cys1202Tyr
NM_004380.2:c.3719G>A	NP_004371.2:p.Cys1240Tyr
ENST00000262367.9:c.3719G>A	ENSP00000262367.5:p.Cys1240Tyr
ENST00000382070.7:c.3605G>A	ENSP00000371502.3:p.Cys1202Tyr
ENST00000570939.2:c.2354G>A	ENSP00000461002.2:p.Cys785Tyr
ENST00000573517.6:c.25G>A
XM_005255124.3:c.3674G>A	XP_005255181.1:p.Cys1225Tyr
XM_005255124.4:c.3674G>A	XP_005255181.1:p.Cys1225Tyr
XM_005255125.3:c.3302G>A	XP_005255182.1:p.Cys1101Tyr
XM_005255125.4:c.3302G>A	XP_005255182.1:p.Cys1101Tyr
XM_006720848.2:c.3719G>A	XP_006720911.1:p.Cys1240Tyr
XM_006720848.3:c.3719G>A	XP_006720911.1:p.Cys1240Tyr
XM_011522380.1:c.3665G>A	XP_011520682.1:p.Cys1222Tyr
XM_011522381.1:c.2966G>A	XP_011520683.1:p.Cys989Tyr
XM_011522381.2:c.2966G>A	XP_011520683.1:p.Cys989Tyr
XM_011522382.1:c.3719G>A	XP_011520684.1:p.Cys1240Tyr
XM_011522382.3:c.3719G>A	XP_011520684.1:p.Cys1240Tyr
XM_017022944.1:c.3713G>A	XP_016878433.1:p.Cys1238Tyr