Canonical Allele Identifier: CA394557388

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151312100
• MyVariant Identifiers: chr16:g.3779775T>A (hg19) ; chr16:g.3729774T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729774T>A , CM000678.2:g.3729774T>A	GRCh38
NC_000016.9:g.3779775T>A , CM000678.1:g.3779775T>A	GRCh37
NC_000016.8:g.3719776T>A	NCBI36
NG_009873.1:g.155347A>T
NG_009873.2:g.155940A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5273A>T MANE Select	ENSP00000262367.5:p.Glu1758Val
ENST00000262367.9:c.5273A>T	ENSP00000262367.5:p.Glu1758Val
ENST00000382070.7:c.5159A>T	ENSP00000371502.3:p.Glu1720Val
NM_001079846.1:c.5159A>T	NP_001073315.1:p.Glu1720Val
NM_004380.2:c.5273A>T	NP_004371.2:p.Glu1758Val
XM_005255124.3:c.5228A>T	XP_005255181.1:p.Glu1743Val
XM_005255125.3:c.4856A>T	XP_005255182.1:p.Glu1619Val
XM_006720848.2:c.5012A>T	XP_006720911.1:p.Glu1671Val
XM_011522380.1:c.5219A>T	XP_011520682.1:p.Glu1740Val
XM_011522381.1:c.4520A>T	XP_011520683.1:p.Glu1507Val
XM_005255124.4:c.5228A>T	XP_005255181.1:p.Glu1743Val
XM_005255125.4:c.4856A>T	XP_005255182.1:p.Glu1619Val
XM_006720848.3:c.5012A>T	XP_006720911.1:p.Glu1671Val
XM_011522381.2:c.4520A>T	XP_011520683.1:p.Glu1507Val
XM_017022944.1:c.5267A>T	XP_016878433.1:p.Glu1756Val
NM_004380.3:c.5273A>T MANE Select	NP_004371.2:p.Glu1758Val