Canonical Allele Identifier: CA277127

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731337C>T , CM000678.2:g.3731337C>T	GRCh38
NC_000016.9:g.3781338C>T , CM000678.1:g.3781338C>T	GRCh37
NC_000016.8:g.3721339C>T	NCBI36
NG_009873.1:g.153784G>A
NG_009873.2:g.154377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5027G>A MANE Select	ENSP00000262367.5:p.Trp1676Ter
ENST00000262367.9:c.5027G>A	ENSP00000262367.5:p.Trp1676Ter
ENST00000382070.7:c.4913G>A	ENSP00000371502.3:p.Trp1638Ter
NM_001079846.1:c.4913G>A	NP_001073315.1:p.Trp1638Ter
NM_004380.2:c.5027G>A	NP_004371.2:p.Trp1676Ter
XM_005255124.3:c.4982G>A	XP_005255181.1:p.Trp1661Ter
XM_005255125.3:c.4610G>A	XP_005255182.1:p.Trp1537Ter
XM_006720848.2:c.4766G>A	XP_006720911.1:p.Trp1589Ter
XM_011522380.1:c.4973G>A	XP_011520682.1:p.Trp1658Ter
XM_011522381.1:c.4274G>A	XP_011520683.1:p.Trp1425Ter
XM_005255124.4:c.4982G>A	XP_005255181.1:p.Trp1661Ter
XM_005255125.4:c.4610G>A	XP_005255182.1:p.Trp1537Ter
XM_006720848.3:c.4766G>A	XP_006720911.1:p.Trp1589Ter
XM_011522381.2:c.4274G>A	XP_011520683.1:p.Trp1425Ter
XM_017022944.1:c.5021G>A	XP_016878433.1:p.Trp1674Ter
NM_004380.3:c.5027G>A MANE Select	NP_004371.2:p.Trp1676Ter