Canonical Allele Identifier: CA394563533

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329401
• MyVariant Identifiers: chr16:g.3786700T>A (hg19) ; chr16:g.3736699T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736699T>A , CM000678.2:g.3736699T>A	GRCh38
NC_000016.9:g.3786700T>A , CM000678.1:g.3786700T>A	GRCh37
NC_000016.8:g.3726701T>A	NCBI36
NG_009873.1:g.148422A>T
NG_009873.2:g.149015A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4511A>T MANE Select	ENSP00000262367.5:p.Lys1504Ile
ENST00000262367.9:c.4511A>T	ENSP00000262367.5:p.Lys1504Ile
ENST00000382070.7:c.4397A>T	ENSP00000371502.3:p.Lys1466Ile
ENST00000570939.2:c.3146A>T	ENSP00000461002.2:p.Lys1049Ile
ENST00000571763.5:n.301A>T
ENST00000574740.1:n.332A>T
ENST00000576720.1:n.3334A>T
NM_001079846.1:c.4397A>T	NP_001073315.1:p.Lys1466Ile
NM_004380.2:c.4511A>T	NP_004371.2:p.Lys1504Ile
XM_005255124.3:c.4466A>T	XP_005255181.1:p.Lys1489Ile
XM_005255125.3:c.4094A>T	XP_005255182.1:p.Lys1365Ile
XM_006720848.2:c.4250A>T	XP_006720911.1:p.Lys1417Ile
XM_011522380.1:c.4457A>T	XP_011520682.1:p.Lys1486Ile
XM_011522381.1:c.3758A>T	XP_011520683.1:p.Lys1253Ile
XM_005255124.4:c.4466A>T	XP_005255181.1:p.Lys1489Ile
XM_005255125.4:c.4094A>T	XP_005255182.1:p.Lys1365Ile
XM_006720848.3:c.4250A>T	XP_006720911.1:p.Lys1417Ile
XM_011522381.2:c.3758A>T	XP_011520683.1:p.Lys1253Ile
XM_017022944.1:c.4505A>T	XP_016878433.1:p.Lys1502Ile
NM_004380.3:c.4511A>T MANE Select	NP_004371.2:p.Lys1504Ile