Canonical Allele Identifier: CA394554969

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151307279
• MyVariant Identifiers: chr16:g.3779124A>T (hg19) ; chr16:g.3729123A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729123A>T , CM000678.2:g.3729123A>T	GRCh38
NC_000016.9:g.3779124A>T , CM000678.1:g.3779124A>T	GRCh37
NC_000016.8:g.3719125A>T	NCBI36
NG_009873.1:g.155998T>A
NG_009873.2:g.156591T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5924T>A MANE Select	ENSP00000262367.5:p.Val1975Glu
ENST00000262367.9:c.5924T>A	ENSP00000262367.5:p.Val1975Glu
ENST00000382070.7:c.5810T>A	ENSP00000371502.3:p.Val1937Glu
NM_001079846.1:c.5810T>A	NP_001073315.1:p.Val1937Glu
NM_004380.2:c.5924T>A	NP_004371.2:p.Val1975Glu
XM_005255124.3:c.5879T>A	XP_005255181.1:p.Val1960Glu
XM_005255125.3:c.5507T>A	XP_005255182.1:p.Val1836Glu
XM_006720848.2:c.5663T>A	XP_006720911.1:p.Val1888Glu
XM_011522380.1:c.5870T>A	XP_011520682.1:p.Val1957Glu
XM_011522381.1:c.5171T>A	XP_011520683.1:p.Val1724Glu
XM_005255124.4:c.5879T>A	XP_005255181.1:p.Val1960Glu
XM_005255125.4:c.5507T>A	XP_005255182.1:p.Val1836Glu
XM_006720848.3:c.5663T>A	XP_006720911.1:p.Val1888Glu
XM_011522381.2:c.5171T>A	XP_011520683.1:p.Val1724Glu
XM_017022944.1:c.5918T>A	XP_016878433.1:p.Val1973Glu
NM_004380.3:c.5924T>A MANE Select	NP_004371.2:p.Val1975Glu