Canonical Allele Identifier: CA394558607

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731336C>T , CM000678.2:g.3731336C>T	GRCh38
NC_000016.9:g.3781337C>T , CM000678.1:g.3781337C>T	GRCh37
NC_000016.8:g.3721338C>T	NCBI36
NG_009873.1:g.153785G>A
NG_009873.2:g.154378G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.5028G>A MANE Select	NP_004371.2:p.Trp1676Ter
ENST00000262367.10:c.5028G>A MANE Select	ENSP00000262367.5:p.Trp1676Ter
NM_001079846.1:c.4914G>A	NP_001073315.1:p.Trp1638Ter
NM_004380.2:c.5028G>A	NP_004371.2:p.Trp1676Ter
ENST00000262367.9:c.5028G>A	ENSP00000262367.5:p.Trp1676Ter
ENST00000382070.7:c.4914G>A	ENSP00000371502.3:p.Trp1638Ter
XM_005255124.3:c.4983G>A	XP_005255181.1:p.Trp1661Ter
XM_005255124.4:c.4983G>A	XP_005255181.1:p.Trp1661Ter
XM_005255125.3:c.4611G>A	XP_005255182.1:p.Trp1537Ter
XM_005255125.4:c.4611G>A	XP_005255182.1:p.Trp1537Ter
XM_006720848.2:c.4767G>A	XP_006720911.1:p.Trp1589Ter
XM_006720848.3:c.4767G>A	XP_006720911.1:p.Trp1589Ter
XM_011522380.1:c.4974G>A	XP_011520682.1:p.Trp1658Ter
XM_011522381.1:c.4275G>A	XP_011520683.1:p.Trp1425Ter
XM_011522381.2:c.4275G>A	XP_011520683.1:p.Trp1425Ter
XM_017022944.1:c.5022G>A	XP_016878433.1:p.Trp1674Ter