Canonical Allele Identifier: CA394560927

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1308965
• ClinVar RCV Id: RCV001754853
• dbSNP Id: rs2141281110
• MyVariant Identifiers: chr16:g.3842086C>A (hg19) ; chr16:g.3792085C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3792085C>A , CM000678.2:g.3792085C>A	GRCh38
NC_000016.9:g.3842086C>A , CM000678.1:g.3842086C>A	GRCh37
NC_000016.8:g.3782087C>A	NCBI36
NG_009873.1:g.93036G>T
NG_009873.2:g.93629G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1226G>T MANE Select	ENSP00000262367.5:p.Cys409Phe
ENST00000262367.9:c.1226G>T	ENSP00000262367.5:p.Cys409Phe
ENST00000382070.7:c.1216+1301G>T	ENSP00000371502.3:n.1216+1301G>T
NM_001079846.1:c.1216+1301G>T	NP_001073315.1:n.1216+1301G>T
NM_004380.2:c.1226G>T	NP_004371.2:p.Cys409Phe
XM_005255124.3:c.1226G>T	XP_005255181.1:p.Cys409Phe
XM_005255125.3:c.1226G>T	XP_005255182.1:p.Cys409Phe
XM_006720848.2:c.1226G>T	XP_006720911.1:p.Cys409Phe
XM_011522380.1:c.1172G>T	XP_011520682.1:p.Cys391Phe
XM_011522381.1:c.473G>T	XP_011520683.1:p.Cys158Phe
XM_011522382.1:c.1226G>T	XP_011520684.1:p.Cys409Phe
XM_005255124.4:c.1226G>T	XP_005255181.1:p.Cys409Phe
XM_005255125.4:c.1226G>T	XP_005255182.1:p.Cys409Phe
XM_006720848.3:c.1226G>T	XP_006720911.1:p.Cys409Phe
XM_011522381.2:c.473G>T	XP_011520683.1:p.Cys158Phe
XM_011522382.3:c.1226G>T	XP_011520684.1:p.Cys409Phe
XM_017022944.1:c.1226G>T	XP_016878433.1:p.Cys409Phe
NM_004380.3:c.1226G>T MANE Select	NP_004371.2:p.Cys409Phe