Canonical Allele Identifier: CA394550058

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151297795
• MyVariant Identifiers: chr16:g.3777721A>T (hg19) ; chr16:g.3727720A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727720A>T , CM000678.2:g.3727720A>T	GRCh38
NC_000016.9:g.3777721A>T , CM000678.1:g.3777721A>T	GRCh37
NC_000016.8:g.3717722A>T	NCBI36
NG_009873.1:g.157401T>A
NG_009873.2:g.157994T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7327T>A MANE Select	ENSP00000262367.5:p.Ter2443Lys
ENST00000262367.9:c.7327T>A	ENSP00000262367.5:p.Ter2443Lys
ENST00000382070.7:c.7213T>A	ENSP00000371502.3:p.Ter2405Lys
NM_001079846.1:c.7213T>A	NP_001073315.1:p.Ter2405Lys
NM_004380.2:c.7327T>A	NP_004371.2:p.Ter2443Lys
XM_005255124.3:c.7282T>A	XP_005255181.1:p.Ter2428Lys
XM_005255125.3:c.6910T>A	XP_005255182.1:p.Ter2304Lys
XM_006720848.2:c.7066T>A	XP_006720911.1:p.Ter2356Lys
XM_011522380.1:c.7273T>A	XP_011520682.1:p.Ter2425Lys
XM_011522381.1:c.6574T>A	XP_011520683.1:p.Ter2192Lys
XM_005255124.4:c.7282T>A	XP_005255181.1:p.Ter2428Lys
XM_005255125.4:c.6910T>A	XP_005255182.1:p.Ter2304Lys
XM_006720848.3:c.7066T>A	XP_006720911.1:p.Ter2356Lys
XM_011522381.2:c.6574T>A	XP_011520683.1:p.Ter2192Lys
XM_017022944.1:c.7321T>A	XP_016878433.1:p.Ter2441Lys
NM_004380.3:c.7327T>A MANE Select	NP_004371.2:p.Ter2443Lys