Canonical Allele Identifier: CA7870203

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3774586T>C , CM000678.2:g.3774586T>C	GRCh38
NC_000016.9:g.3824587T>C , CM000678.1:g.3824587T>C	GRCh37
NC_000016.8:g.3764588T>C	NCBI36
NG_009873.1:g.110535A>G
NG_009873.2:g.111128A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2266A>G MANE Select	NP_004371.2:p.Met756Val
ENST00000262367.10:c.2266A>G MANE Select	ENSP00000262367.5:p.Met756Val
NM_001079846.1:c.2152A>G	NP_001073315.1:p.Met718Val
NM_004380.2:c.2266A>G	NP_004371.2:p.Met756Val
ENST00000262367.9:c.2266A>G	ENSP00000262367.5:p.Met756Val
ENST00000382070.7:c.2152A>G	ENSP00000371502.3:p.Met718Val
ENST00000570939.2:c.871A>G	ENSP00000461002.2:p.Met291Val
ENST00000571826.5:c.315A>G
ENST00000572134.1:c.534A>G
ENST00000575237.2:n.161A>G
XM_005255124.3:c.2221A>G	XP_005255181.1:p.Met741Val
XM_005255124.4:c.2221A>G	XP_005255181.1:p.Met741Val
XM_005255125.3:c.2266A>G	XP_005255182.1:p.Met756Val
XM_005255125.4:c.2266A>G	XP_005255182.1:p.Met756Val
XM_006720848.2:c.2266A>G	XP_006720911.1:p.Met756Val
XM_006720848.3:c.2266A>G	XP_006720911.1:p.Met756Val
XM_011522380.1:c.2212A>G	XP_011520682.1:p.Met738Val
XM_011522381.1:c.1513A>G	XP_011520683.1:p.Met505Val
XM_011522381.2:c.1513A>G	XP_011520683.1:p.Met505Val
XM_011522382.1:c.2266A>G	XP_011520684.1:p.Met756Val
XM_011522382.3:c.2266A>G	XP_011520684.1:p.Met756Val
XM_017022944.1:c.2266A>G	XP_016878433.1:p.Met756Val