Canonical Allele Identifier: CA394566170

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3860759T>A (hg19) ; chr16:g.3810758T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810758T>A , CM000678.2:g.3810758T>A	GRCh38
NC_000016.9:g.3860759T>A , CM000678.1:g.3860759T>A	GRCh37
NC_000016.8:g.3800760T>A	NCBI36
NG_009873.1:g.74363A>T
NG_009873.2:g.74956A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.820A>T MANE Select	ENSP00000262367.5:p.Ser274Cys
ENST00000635899.1:n.62A>T
ENST00000262367.9:c.820A>T	ENSP00000262367.5:p.Ser274Cys
ENST00000382070.7:c.820A>T	ENSP00000371502.3:p.Ser274Cys
NM_001079846.1:c.820A>T	NP_001073315.1:p.Ser274Cys
NM_004380.2:c.820A>T	NP_004371.2:p.Ser274Cys
XM_005255124.3:c.820A>T	XP_005255181.1:p.Ser274Cys
XM_005255125.3:c.820A>T	XP_005255182.1:p.Ser274Cys
XM_006720848.2:c.820A>T	XP_006720911.1:p.Ser274Cys
XM_011522380.1:c.766A>T	XP_011520682.1:p.Ser256Cys
XM_011522381.1:c.67A>T	XP_011520683.1:p.Ser23Cys
XM_011522382.1:c.820A>T	XP_011520684.1:p.Ser274Cys
XM_005255124.4:c.820A>T	XP_005255181.1:p.Ser274Cys
XM_005255125.4:c.820A>T	XP_005255182.1:p.Ser274Cys
XM_006720848.3:c.820A>T	XP_006720911.1:p.Ser274Cys
XM_011522381.2:c.67A>T	XP_011520683.1:p.Ser23Cys
XM_011522382.3:c.820A>T	XP_011520684.1:p.Ser274Cys
XM_017022944.1:c.820A>T	XP_016878433.1:p.Ser274Cys
NM_004380.3:c.820A>T MANE Select	NP_004371.2:p.Ser274Cys