Canonical Allele Identifier: CA271405

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 158368
• ClinVar RCV Id: RCV000145748 ; RCV002464124
• dbSNP Id: rs587783490
• COSMIC: COSM88763
• MyVariant Identifiers: chr16:g.3790455G>A (hg19) ; chr16:g.3740454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740454G>A , CM000678.2:g.3740454G>A	GRCh38
NC_000016.9:g.3790455G>A , CM000678.1:g.3790455G>A	GRCh37
NC_000016.8:g.3730456G>A	NCBI36
NG_009873.1:g.144667C>T
NG_009873.2:g.145260C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4078C>T MANE Select	ENSP00000262367.5:p.Arg1360Ter
ENST00000262367.9:c.4078C>T	ENSP00000262367.5:p.Arg1360Ter
ENST00000382070.7:c.3964C>T	ENSP00000371502.3:p.Arg1322Ter
ENST00000570939.2:c.2713C>T	ENSP00000461002.2:p.Arg905Ter
ENST00000572569.1:n.542C>T
ENST00000573517.6:c.384C>T
ENST00000574740.1:n.160C>T
ENST00000576720.1:n.3015C>T
NM_001079846.1:c.3964C>T	NP_001073315.1:p.Arg1322Ter
NM_004380.2:c.4078C>T	NP_004371.2:p.Arg1360Ter
XM_005255124.3:c.4033C>T	XP_005255181.1:p.Arg1345Ter
XM_005255125.3:c.3661C>T	XP_005255182.1:p.Arg1221Ter
XM_006720848.2:c.4078C>T	XP_006720911.1:p.Arg1360Ter
XM_011522380.1:c.4024C>T	XP_011520682.1:p.Arg1342Ter
XM_011522381.1:c.3325C>T	XP_011520683.1:p.Arg1109Ter
XM_005255124.4:c.4033C>T	XP_005255181.1:p.Arg1345Ter
XM_005255125.4:c.3661C>T	XP_005255182.1:p.Arg1221Ter
XM_006720848.3:c.4078C>T	XP_006720911.1:p.Arg1360Ter
XM_011522381.2:c.3325C>T	XP_011520683.1:p.Arg1109Ter
XM_017022944.1:c.4072C>T	XP_016878433.1:p.Arg1358Ter
NM_004380.3:c.4078C>T MANE Select	NP_004371.2:p.Arg1360Ter