Canonical Allele Identifier: CA394566640

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3744936T>A , CM000678.2:g.3744936T>A	GRCh38
NC_000016.9:g.3794937T>A , CM000678.1:g.3794937T>A	GRCh37
NC_000016.8:g.3734938T>A	NCBI36
NG_009873.1:g.140185A>T
NG_009873.2:g.140778A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3940A>T MANE Select	ENSP00000262367.5:p.Lys1314Ter
ENST00000262367.9:c.3940A>T	ENSP00000262367.5:p.Lys1314Ter
ENST00000382070.7:c.3826A>T	ENSP00000371502.3:p.Lys1276Ter
ENST00000570939.2:c.2575A>T	ENSP00000461002.2:p.Lys859Ter
ENST00000572569.1:n.404A>T
ENST00000573517.6:c.246A>T
ENST00000574740.1:n.22A>T
NM_001079846.1:c.3826A>T	NP_001073315.1:p.Lys1276Ter
NM_004380.2:c.3940A>T	NP_004371.2:p.Lys1314Ter
XM_005255124.3:c.3895A>T	XP_005255181.1:p.Lys1299Ter
XM_005255125.3:c.3523A>T	XP_005255182.1:p.Lys1175Ter
XM_006720848.2:c.3940A>T	XP_006720911.1:p.Lys1314Ter
XM_011522380.1:c.3886A>T	XP_011520682.1:p.Lys1296Ter
XM_011522381.1:c.3187A>T	XP_011520683.1:p.Lys1063Ter
XM_005255124.4:c.3895A>T	XP_005255181.1:p.Lys1299Ter
XM_005255125.4:c.3523A>T	XP_005255182.1:p.Lys1175Ter
XM_006720848.3:c.3940A>T	XP_006720911.1:p.Lys1314Ter
XM_011522381.2:c.3187A>T	XP_011520683.1:p.Lys1063Ter
XM_017022944.1:c.3934A>T	XP_016878433.1:p.Lys1312Ter
NM_004380.3:c.3940A>T MANE Select	NP_004371.2:p.Lys1314Ter