Canonical Allele Identifier: CA394556148

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779536A>T (hg19) ; chr16:g.3729535A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729535A>T , CM000678.2:g.3729535A>T	GRCh38
NC_000016.9:g.3779536A>T , CM000678.1:g.3779536A>T	GRCh37
NC_000016.8:g.3719537A>T	NCBI36
NG_009873.1:g.155586T>A
NG_009873.2:g.156179T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5512T>A MANE Select	ENSP00000262367.5:p.Cys1838Ser
ENST00000262367.9:c.5512T>A	ENSP00000262367.5:p.Cys1838Ser
ENST00000382070.7:c.5398T>A	ENSP00000371502.3:p.Cys1800Ser
NM_001079846.1:c.5398T>A	NP_001073315.1:p.Cys1800Ser
NM_004380.2:c.5512T>A	NP_004371.2:p.Cys1838Ser
XM_005255124.3:c.5467T>A	XP_005255181.1:p.Cys1823Ser
XM_005255125.3:c.5095T>A	XP_005255182.1:p.Cys1699Ser
XM_006720848.2:c.5251T>A	XP_006720911.1:p.Cys1751Ser
XM_011522380.1:c.5458T>A	XP_011520682.1:p.Cys1820Ser
XM_011522381.1:c.4759T>A	XP_011520683.1:p.Cys1587Ser
XM_005255124.4:c.5467T>A	XP_005255181.1:p.Cys1823Ser
XM_005255125.4:c.5095T>A	XP_005255182.1:p.Cys1699Ser
XM_006720848.3:c.5251T>A	XP_006720911.1:p.Cys1751Ser
XM_011522381.2:c.4759T>A	XP_011520683.1:p.Cys1587Ser
XM_017022944.1:c.5506T>A	XP_016878433.1:p.Cys1836Ser
NM_004380.3:c.5512T>A MANE Select	NP_004371.2:p.Cys1838Ser