Canonical Allele Identifier: CA394558168

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731235C>T , CM000678.2:g.3731235C>T	GRCh38
NC_000016.9:g.3781236C>T , CM000678.1:g.3781236C>T	GRCh37
NC_000016.8:g.3721237C>T	NCBI36
NG_009873.1:g.153886G>A
NG_009873.2:g.154479G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5129G>A MANE Select	NP_004371.2:p.Cys1710Tyr
ENST00000262367.10:c.5129G>A MANE Select	ENSP00000262367.5:p.Cys1710Tyr
NM_001079846.1:c.5015G>A	NP_001073315.1:p.Cys1672Tyr
NM_004380.2:c.5129G>A	NP_004371.2:p.Cys1710Tyr
ENST00000262367.9:c.5129G>A	ENSP00000262367.5:p.Cys1710Tyr
ENST00000382070.7:c.5015G>A	ENSP00000371502.3:p.Cys1672Tyr
ENST00000637492.1:c.16G>A
XM_005255124.3:c.5084G>A	XP_005255181.1:p.Cys1695Tyr
XM_005255124.4:c.5084G>A	XP_005255181.1:p.Cys1695Tyr
XM_005255125.3:c.4712G>A	XP_005255182.1:p.Cys1571Tyr
XM_005255125.4:c.4712G>A	XP_005255182.1:p.Cys1571Tyr
XM_006720848.2:c.4868G>A	XP_006720911.1:p.Cys1623Tyr
XM_006720848.3:c.4868G>A	XP_006720911.1:p.Cys1623Tyr
XM_011522380.1:c.5075G>A	XP_011520682.1:p.Cys1692Tyr
XM_011522381.1:c.4376G>A	XP_011520683.1:p.Cys1459Tyr
XM_011522381.2:c.4376G>A	XP_011520683.1:p.Cys1459Tyr
XM_017022944.1:c.5123G>A	XP_016878433.1:p.Cys1708Tyr