Canonical Allele Identifier: CA7870076

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770880G>A , CM000678.2:g.3770880G>A	GRCh38
NC_000016.9:g.3820881G>A , CM000678.1:g.3820881G>A	GRCh37
NC_000016.8:g.3760882G>A	NCBI36
NG_009873.1:g.114241C>T
NG_009873.2:g.114834C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2570C>T MANE Select	NP_004371.2:p.Pro857Leu
ENST00000262367.10:c.2570C>T MANE Select	ENSP00000262367.5:p.Pro857Leu
NM_001079846.1:c.2456C>T	NP_001073315.1:p.Pro819Leu
NM_004380.2:c.2570C>T	NP_004371.2:p.Pro857Leu
ENST00000262367.9:c.2570C>T	ENSP00000262367.5:p.Pro857Leu
ENST00000382070.7:c.2456C>T	ENSP00000371502.3:p.Pro819Leu
ENST00000570939.2:c.1175C>T	ENSP00000461002.2:p.Pro392Leu
XM_005255124.3:c.2525C>T	XP_005255181.1:p.Pro842Leu
XM_005255124.4:c.2525C>T	XP_005255181.1:p.Pro842Leu
XM_005255125.3:c.2464-1527C>T	XP_005255182.1:n.2464-1527C>T
XM_005255125.4:c.2464-1527C>T	XP_005255182.1:n.2464-1527C>T
XM_006720848.2:c.2570C>T	XP_006720911.1:p.Pro857Leu
XM_006720848.3:c.2570C>T	XP_006720911.1:p.Pro857Leu
XM_011522380.1:c.2516C>T	XP_011520682.1:p.Pro839Leu
XM_011522381.1:c.1817C>T	XP_011520683.1:p.Pro606Leu
XM_011522381.2:c.1817C>T	XP_011520683.1:p.Pro606Leu
XM_011522382.1:c.2570C>T	XP_011520684.1:p.Pro857Leu
XM_011522382.3:c.2570C>T	XP_011520684.1:p.Pro857Leu
XM_017022944.1:c.2564C>T	XP_016878433.1:p.Pro855Leu