Canonical Allele Identifier: CA394569509

Gene: CREBBP

Linked Data

• COSMIC: COSM6211588
• MyVariant Identifiers: chr16:g.3808898A>T (hg19) ; chr16:g.3758897A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3758897A>T , CM000678.2:g.3758897A>T	GRCh38
NC_000016.9:g.3808898A>T , CM000678.1:g.3808898A>T	GRCh37
NC_000016.8:g.3748899A>T	NCBI36
NG_009873.1:g.126224T>A
NG_009873.2:g.126817T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3326T>A MANE Select	ENSP00000262367.5:p.Leu1109Ter
ENST00000262367.9:c.3326T>A	ENSP00000262367.5:p.Leu1109Ter
ENST00000382070.7:c.3212T>A	ENSP00000371502.3:p.Leu1071Ter
ENST00000570939.2:c.1931T>A	ENSP00000461002.2:p.Leu644Ter
NM_001079846.1:c.3212T>A	NP_001073315.1:p.Leu1071Ter
NM_004380.2:c.3326T>A	NP_004371.2:p.Leu1109Ter
XM_005255124.3:c.3281T>A	XP_005255181.1:p.Leu1094Ter
XM_005255125.3:c.2909T>A	XP_005255182.1:p.Leu970Ter
XM_006720848.2:c.3326T>A	XP_006720911.1:p.Leu1109Ter
XM_011522380.1:c.3272T>A	XP_011520682.1:p.Leu1091Ter
XM_011522381.1:c.2573T>A	XP_011520683.1:p.Leu858Ter
XM_011522382.1:c.3326T>A	XP_011520684.1:p.Leu1109Ter
XM_005255124.4:c.3281T>A	XP_005255181.1:p.Leu1094Ter
XM_005255125.4:c.2909T>A	XP_005255182.1:p.Leu970Ter
XM_006720848.3:c.3326T>A	XP_006720911.1:p.Leu1109Ter
XM_011522381.2:c.2573T>A	XP_011520683.1:p.Leu858Ter
XM_011522382.3:c.3326T>A	XP_011520684.1:p.Leu1109Ter
XM_017022944.1:c.3320T>A	XP_016878433.1:p.Leu1107Ter
NM_004380.3:c.3326T>A MANE Select	NP_004371.2:p.Leu1109Ter