Canonical Allele Identifier: CA394562714

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736151G>A , CM000678.2:g.3736151G>A	GRCh38
NC_000016.9:g.3786152G>A , CM000678.1:g.3786152G>A	GRCh37
NC_000016.8:g.3726153G>A	NCBI36
NG_009873.1:g.148970C>T
NG_009873.2:g.149563C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4613C>T MANE Select	NP_004371.2:p.Pro1538Leu
ENST00000262367.10:c.4613C>T MANE Select	ENSP00000262367.5:p.Pro1538Leu
NM_001079846.1:c.4499C>T	NP_001073315.1:p.Pro1500Leu
NM_004380.2:c.4613C>T	NP_004371.2:p.Pro1538Leu
ENST00000262367.9:c.4613C>T	ENSP00000262367.5:p.Pro1538Leu
ENST00000382070.7:c.4499C>T	ENSP00000371502.3:p.Pro1500Leu
ENST00000570939.2:c.3248C>T	ENSP00000461002.2:p.Pro1083Leu
ENST00000571763.5:n.403C>T
ENST00000576720.1:n.3436C>T
XM_005255124.3:c.4568C>T	XP_005255181.1:p.Pro1523Leu
XM_005255124.4:c.4568C>T	XP_005255181.1:p.Pro1523Leu
XM_005255125.3:c.4196C>T	XP_005255182.1:p.Pro1399Leu
XM_005255125.4:c.4196C>T	XP_005255182.1:p.Pro1399Leu
XM_006720848.2:c.4352C>T	XP_006720911.1:p.Pro1451Leu
XM_006720848.3:c.4352C>T	XP_006720911.1:p.Pro1451Leu
XM_011522380.1:c.4559C>T	XP_011520682.1:p.Pro1520Leu
XM_011522381.1:c.3860C>T	XP_011520683.1:p.Pro1287Leu
XM_011522381.2:c.3860C>T	XP_011520683.1:p.Pro1287Leu
XM_017022944.1:c.4607C>T	XP_016878433.1:p.Pro1536Leu