Canonical Allele Identifier: CA394556113

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779521A>T (hg19) ; chr16:g.3729520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729520A>T , CM000678.2:g.3729520A>T	GRCh38
NC_000016.9:g.3779521A>T , CM000678.1:g.3779521A>T	GRCh37
NC_000016.8:g.3719522A>T	NCBI36
NG_009873.1:g.155601T>A
NG_009873.2:g.156194T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5527T>A MANE Select	ENSP00000262367.5:p.Cys1843Ser
ENST00000262367.9:c.5527T>A	ENSP00000262367.5:p.Cys1843Ser
ENST00000382070.7:c.5413T>A	ENSP00000371502.3:p.Cys1805Ser
NM_001079846.1:c.5413T>A	NP_001073315.1:p.Cys1805Ser
NM_004380.2:c.5527T>A	NP_004371.2:p.Cys1843Ser
XM_005255124.3:c.5482T>A	XP_005255181.1:p.Cys1828Ser
XM_005255125.3:c.5110T>A	XP_005255182.1:p.Cys1704Ser
XM_006720848.2:c.5266T>A	XP_006720911.1:p.Cys1756Ser
XM_011522380.1:c.5473T>A	XP_011520682.1:p.Cys1825Ser
XM_011522381.1:c.4774T>A	XP_011520683.1:p.Cys1592Ser
XM_005255124.4:c.5482T>A	XP_005255181.1:p.Cys1828Ser
XM_005255125.4:c.5110T>A	XP_005255182.1:p.Cys1704Ser
XM_006720848.3:c.5266T>A	XP_006720911.1:p.Cys1756Ser
XM_011522381.2:c.4774T>A	XP_011520683.1:p.Cys1592Ser
XM_017022944.1:c.5521T>A	XP_016878433.1:p.Cys1841Ser
NM_004380.3:c.5527T>A MANE Select	NP_004371.2:p.Cys1843Ser