Canonical Allele Identifier: CA394563476

Gene: CREBBP

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736690A>T , CM000678.2:g.3736690A>T	GRCh38
NC_000016.9:g.3786691A>T , CM000678.1:g.3786691A>T	GRCh37
NC_000016.8:g.3726692A>T	NCBI36
NG_009873.1:g.148431T>A
NG_009873.2:g.149024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4520T>A MANE Select	ENSP00000262367.5:p.Leu1507Gln
ENST00000262367.9:c.4520T>A	ENSP00000262367.5:p.Leu1507Gln
ENST00000382070.7:c.4406T>A	ENSP00000371502.3:p.Leu1469Gln
ENST00000570939.2:c.3155T>A	ENSP00000461002.2:p.Leu1052Gln
ENST00000571763.5:n.310T>A
ENST00000574740.1:n.341T>A
ENST00000576720.1:n.3343T>A
NM_001079846.1:c.4406T>A	NP_001073315.1:p.Leu1469Gln
NM_004380.2:c.4520T>A	NP_004371.2:p.Leu1507Gln
XM_005255124.3:c.4475T>A	XP_005255181.1:p.Leu1492Gln
XM_005255125.3:c.4103T>A	XP_005255182.1:p.Leu1368Gln
XM_006720848.2:c.4259T>A	XP_006720911.1:p.Leu1420Gln
XM_011522380.1:c.4466T>A	XP_011520682.1:p.Leu1489Gln
XM_011522381.1:c.3767T>A	XP_011520683.1:p.Leu1256Gln
XM_005255124.4:c.4475T>A	XP_005255181.1:p.Leu1492Gln
XM_005255125.4:c.4103T>A	XP_005255182.1:p.Leu1368Gln
XM_006720848.3:c.4259T>A	XP_006720911.1:p.Leu1420Gln
XM_011522381.2:c.3767T>A	XP_011520683.1:p.Leu1256Gln
XM_017022944.1:c.4514T>A	XP_016878433.1:p.Leu1505Gln
NM_004380.3:c.4520T>A MANE Select	NP_004371.2:p.Leu1507Gln