Canonical Allele Identifier: CA7869702

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3745350C>T , CM000678.2:g.3745350C>T	GRCh38
NC_000016.9:g.3795351C>T , CM000678.1:g.3795351C>T	GRCh37
NC_000016.8:g.3735352C>T	NCBI36
NG_009873.1:g.139771G>A
NG_009873.2:g.140364G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3841G>A MANE Select	NP_004371.2:p.Val1281Ile
ENST00000262367.10:c.3841G>A MANE Select	ENSP00000262367.5:p.Val1281Ile
NM_001079846.1:c.3727G>A	NP_001073315.1:p.Val1243Ile
NM_004380.2:c.3841G>A	NP_004371.2:p.Val1281Ile
ENST00000262367.9:c.3841G>A	ENSP00000262367.5:p.Val1281Ile
ENST00000382070.7:c.3727G>A	ENSP00000371502.3:p.Val1243Ile
ENST00000570939.2:c.2476G>A	ENSP00000461002.2:p.Val826Ile
ENST00000572569.1:n.305G>A
ENST00000573517.6:c.147G>A
XM_005255124.3:c.3796G>A	XP_005255181.1:p.Val1266Ile
XM_005255124.4:c.3796G>A	XP_005255181.1:p.Val1266Ile
XM_005255125.3:c.3424G>A	XP_005255182.1:p.Val1142Ile
XM_005255125.4:c.3424G>A	XP_005255182.1:p.Val1142Ile
XM_006720848.2:c.3841G>A	XP_006720911.1:p.Val1281Ile
XM_006720848.3:c.3841G>A	XP_006720911.1:p.Val1281Ile
XM_011522380.1:c.3787G>A	XP_011520682.1:p.Val1263Ile
XM_011522381.1:c.3088G>A	XP_011520683.1:p.Val1030Ile
XM_011522381.2:c.3088G>A	XP_011520683.1:p.Val1030Ile
XM_017022944.1:c.3835G>A	XP_016878433.1:p.Val1279Ile