Canonical Allele Identifier: CA394556019

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779488G>T (hg19) ; chr16:g.3729487G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729487G>T , CM000678.2:g.3729487G>T	GRCh38
NC_000016.9:g.3779488G>T , CM000678.1:g.3779488G>T	GRCh37
NC_000016.8:g.3719489G>T	NCBI36
NG_009873.1:g.155634C>A
NG_009873.2:g.156227C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5560C>A MANE Select	ENSP00000262367.5:p.Gln1854Lys
ENST00000262367.9:c.5560C>A	ENSP00000262367.5:p.Gln1854Lys
ENST00000382070.7:c.5446C>A	ENSP00000371502.3:p.Gln1816Lys
NM_001079846.1:c.5446C>A	NP_001073315.1:p.Gln1816Lys
NM_004380.2:c.5560C>A	NP_004371.2:p.Gln1854Lys
XM_005255124.3:c.5515C>A	XP_005255181.1:p.Gln1839Lys
XM_005255125.3:c.5143C>A	XP_005255182.1:p.Gln1715Lys
XM_006720848.2:c.5299C>A	XP_006720911.1:p.Gln1767Lys
XM_011522380.1:c.5506C>A	XP_011520682.1:p.Gln1836Lys
XM_011522381.1:c.4807C>A	XP_011520683.1:p.Gln1603Lys
XM_005255124.4:c.5515C>A	XP_005255181.1:p.Gln1839Lys
XM_005255125.4:c.5143C>A	XP_005255182.1:p.Gln1715Lys
XM_006720848.3:c.5299C>A	XP_006720911.1:p.Gln1767Lys
XM_011522381.2:c.4807C>A	XP_011520683.1:p.Gln1603Lys
XM_017022944.1:c.5554C>A	XP_016878433.1:p.Gln1852Lys
NM_004380.3:c.5560C>A MANE Select	NP_004371.2:p.Gln1854Lys