Canonical Allele Identifier: CA394563628

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736715G>C , CM000678.2:g.3736715G>C	GRCh38
NC_000016.9:g.3786716G>C , CM000678.1:g.3786716G>C	GRCh37
NC_000016.8:g.3726717G>C	NCBI36
NG_009873.1:g.148406C>G
NG_009873.2:g.148999C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4495C>G MANE Select	NP_004371.2:p.Leu1499Val
ENST00000262367.10:c.4495C>G MANE Select	ENSP00000262367.5:p.Leu1499Val
NM_001079846.1:c.4381C>G	NP_001073315.1:p.Leu1461Val
NM_004380.2:c.4495C>G	NP_004371.2:p.Leu1499Val
ENST00000262367.9:c.4495C>G	ENSP00000262367.5:p.Leu1499Val
ENST00000382070.7:c.4381C>G	ENSP00000371502.3:p.Leu1461Val
ENST00000570939.2:c.3130C>G	ENSP00000461002.2:p.Leu1044Val
ENST00000571763.5:n.285C>G
ENST00000574740.1:n.316C>G
ENST00000576720.1:n.3318C>G
XM_005255124.3:c.4450C>G	XP_005255181.1:p.Leu1484Val
XM_005255124.4:c.4450C>G	XP_005255181.1:p.Leu1484Val
XM_005255125.3:c.4078C>G	XP_005255182.1:p.Leu1360Val
XM_005255125.4:c.4078C>G	XP_005255182.1:p.Leu1360Val
XM_006720848.2:c.4234C>G	XP_006720911.1:p.Leu1412Val
XM_006720848.3:c.4234C>G	XP_006720911.1:p.Leu1412Val
XM_011522380.1:c.4441C>G	XP_011520682.1:p.Leu1481Val
XM_011522381.1:c.3742C>G	XP_011520683.1:p.Leu1248Val
XM_011522381.2:c.3742C>G	XP_011520683.1:p.Leu1248Val
XM_017022944.1:c.4489C>G	XP_016878433.1:p.Leu1497Val