Canonical Allele Identifier: CA394565438

Gene: CREBBP

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740510C>T , CM000678.2:g.3740510C>T	GRCh38
NC_000016.9:g.3790511C>T , CM000678.1:g.3790511C>T	GRCh37
NC_000016.8:g.3730512C>T	NCBI36
NG_009873.1:g.144611G>A
NG_009873.2:g.145204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4022G>A MANE Select	ENSP00000262367.5:p.Arg1341Gln
ENST00000262367.9:c.4022G>A	ENSP00000262367.5:p.Arg1341Gln
ENST00000382070.7:c.3908G>A	ENSP00000371502.3:p.Arg1303Gln
ENST00000570939.2:c.2657G>A	ENSP00000461002.2:p.Arg886Gln
ENST00000572569.1:n.486G>A
ENST00000573517.6:c.328G>A
ENST00000574740.1:n.104G>A
ENST00000576720.1:n.2959G>A
NM_001079846.1:c.3908G>A	NP_001073315.1:p.Arg1303Gln
NM_004380.2:c.4022G>A	NP_004371.2:p.Arg1341Gln
XM_005255124.3:c.3977G>A	XP_005255181.1:p.Arg1326Gln
XM_005255125.3:c.3605G>A	XP_005255182.1:p.Arg1202Gln
XM_006720848.2:c.4022G>A	XP_006720911.1:p.Arg1341Gln
XM_011522380.1:c.3968G>A	XP_011520682.1:p.Arg1323Gln
XM_011522381.1:c.3269G>A	XP_011520683.1:p.Arg1090Gln
XM_005255124.4:c.3977G>A	XP_005255181.1:p.Arg1326Gln
XM_005255125.4:c.3605G>A	XP_005255182.1:p.Arg1202Gln
XM_006720848.3:c.4022G>A	XP_006720911.1:p.Arg1341Gln
XM_011522381.2:c.3269G>A	XP_011520683.1:p.Arg1090Gln
XM_017022944.1:c.4016G>A	XP_016878433.1:p.Arg1339Gln
NM_004380.3:c.4022G>A MANE Select	NP_004371.2:p.Arg1341Gln