Canonical Allele Identifier: CA394566783

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3745309G>C , CM000678.2:g.3745309G>C	GRCh38
NC_000016.9:g.3795310G>C , CM000678.1:g.3795310G>C	GRCh37
NC_000016.8:g.3735311G>C	NCBI36
NG_009873.1:g.139812C>G
NG_009873.2:g.140405C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3882C>G MANE Select	NP_004371.2:p.Cys1294Trp
ENST00000262367.10:c.3882C>G MANE Select	ENSP00000262367.5:p.Cys1294Trp
NM_001079846.1:c.3768C>G	NP_001073315.1:p.Cys1256Trp
NM_004380.2:c.3882C>G	NP_004371.2:p.Cys1294Trp
ENST00000262367.9:c.3882C>G	ENSP00000262367.5:p.Cys1294Trp
ENST00000382070.7:c.3768C>G	ENSP00000371502.3:p.Cys1256Trp
ENST00000570939.2:c.2517C>G	ENSP00000461002.2:p.Cys839Trp
ENST00000572569.1:n.346C>G
ENST00000573517.6:c.188C>G
XM_005255124.3:c.3837C>G	XP_005255181.1:p.Cys1279Trp
XM_005255124.4:c.3837C>G	XP_005255181.1:p.Cys1279Trp
XM_005255125.3:c.3465C>G	XP_005255182.1:p.Cys1155Trp
XM_005255125.4:c.3465C>G	XP_005255182.1:p.Cys1155Trp
XM_006720848.2:c.3882C>G	XP_006720911.1:p.Cys1294Trp
XM_006720848.3:c.3882C>G	XP_006720911.1:p.Cys1294Trp
XM_011522380.1:c.3828C>G	XP_011520682.1:p.Cys1276Trp
XM_011522381.1:c.3129C>G	XP_011520683.1:p.Cys1043Trp
XM_011522381.2:c.3129C>G	XP_011520683.1:p.Cys1043Trp
XM_017022944.1:c.3876C>G	XP_016878433.1:p.Cys1292Trp