Canonical Allele Identifier: CA394563973

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329922
• COSMIC: COSM3509554
• MyVariant Identifiers: chr16:g.3786779C>T (hg19) ; chr16:g.3736778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736778C>T , CM000678.2:g.3736778C>T	GRCh38
NC_000016.9:g.3786779C>T , CM000678.1:g.3786779C>T	GRCh37
NC_000016.8:g.3726780C>T	NCBI36
NG_009873.1:g.148343G>A
NG_009873.2:g.148936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4432G>A MANE Select	ENSP00000262367.5:p.Glu1478Lys
ENST00000262367.9:c.4432G>A	ENSP00000262367.5:p.Glu1478Lys
ENST00000382070.7:c.4318G>A	ENSP00000371502.3:p.Glu1440Lys
ENST00000570939.2:c.3067G>A	ENSP00000461002.2:p.Glu1023Lys
ENST00000571763.5:n.222G>A
ENST00000574740.1:n.253G>A
ENST00000576720.1:n.3255G>A
NM_001079846.1:c.4318G>A	NP_001073315.1:p.Glu1440Lys
NM_004380.2:c.4432G>A	NP_004371.2:p.Glu1478Lys
XM_005255124.3:c.4387G>A	XP_005255181.1:p.Glu1463Lys
XM_005255125.3:c.4015G>A	XP_005255182.1:p.Glu1339Lys
XM_006720848.2:c.4171G>A	XP_006720911.1:p.Glu1391Lys
XM_011522380.1:c.4378G>A	XP_011520682.1:p.Glu1460Lys
XM_011522381.1:c.3679G>A	XP_011520683.1:p.Glu1227Lys
XM_005255124.4:c.4387G>A	XP_005255181.1:p.Glu1463Lys
XM_005255125.4:c.4015G>A	XP_005255182.1:p.Glu1339Lys
XM_006720848.3:c.4171G>A	XP_006720911.1:p.Glu1391Lys
XM_011522381.2:c.3679G>A	XP_011520683.1:p.Glu1227Lys
XM_017022944.1:c.4426G>A	XP_016878433.1:p.Glu1476Lys
NM_004380.3:c.4432G>A MANE Select	NP_004371.2:p.Glu1478Lys