Canonical Allele Identifier: CA394557997

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731195G>C , CM000678.2:g.3731195G>C	GRCh38
NC_000016.9:g.3781196G>C , CM000678.1:g.3781196G>C	GRCh37
NC_000016.8:g.3721197G>C	NCBI36
NG_009873.1:g.153926C>G
NG_009873.2:g.154519C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5169C>G MANE Select	NP_004371.2:p.Cys1723Trp
ENST00000262367.10:c.5169C>G MANE Select	ENSP00000262367.5:p.Cys1723Trp
NM_001079846.1:c.5055C>G	NP_001073315.1:p.Cys1685Trp
NM_004380.2:c.5169C>G	NP_004371.2:p.Cys1723Trp
ENST00000262367.9:c.5169C>G	ENSP00000262367.5:p.Cys1723Trp
ENST00000382070.7:c.5055C>G	ENSP00000371502.3:p.Cys1685Trp
ENST00000637492.1:c.56C>G
XM_005255124.3:c.5124C>G	XP_005255181.1:p.Cys1708Trp
XM_005255124.4:c.5124C>G	XP_005255181.1:p.Cys1708Trp
XM_005255125.3:c.4752C>G	XP_005255182.1:p.Cys1584Trp
XM_005255125.4:c.4752C>G	XP_005255182.1:p.Cys1584Trp
XM_006720848.2:c.4908C>G	XP_006720911.1:p.Cys1636Trp
XM_006720848.3:c.4908C>G	XP_006720911.1:p.Cys1636Trp
XM_011522380.1:c.5115C>G	XP_011520682.1:p.Cys1705Trp
XM_011522381.1:c.4416C>G	XP_011520683.1:p.Cys1472Trp
XM_011522381.2:c.4416C>G	XP_011520683.1:p.Cys1472Trp
XM_017022944.1:c.5163C>G	XP_016878433.1:p.Cys1721Trp