Canonical Allele Identifier: CA394550534

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299273
• MyVariant Identifiers: chr16:g.3777948A>T (hg19) ; chr16:g.3727947A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727947A>T , CM000678.2:g.3727947A>T	GRCh38
NC_000016.9:g.3777948A>T , CM000678.1:g.3777948A>T	GRCh37
NC_000016.8:g.3717949A>T	NCBI36
NG_009873.1:g.157174T>A
NG_009873.2:g.157767T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7100T>A MANE Select	ENSP00000262367.5:p.Ile2367Lys
ENST00000262367.9:c.7100T>A	ENSP00000262367.5:p.Ile2367Lys
ENST00000382070.7:c.6986T>A	ENSP00000371502.3:p.Ile2329Lys
NM_001079846.1:c.6986T>A	NP_001073315.1:p.Ile2329Lys
NM_004380.2:c.7100T>A	NP_004371.2:p.Ile2367Lys
XM_005255124.3:c.7055T>A	XP_005255181.1:p.Ile2352Lys
XM_005255125.3:c.6683T>A	XP_005255182.1:p.Ile2228Lys
XM_006720848.2:c.6839T>A	XP_006720911.1:p.Ile2280Lys
XM_011522380.1:c.7046T>A	XP_011520682.1:p.Ile2349Lys
XM_011522381.1:c.6347T>A	XP_011520683.1:p.Ile2116Lys
XM_005255124.4:c.7055T>A	XP_005255181.1:p.Ile2352Lys
XM_005255125.4:c.6683T>A	XP_005255182.1:p.Ile2228Lys
XM_006720848.3:c.6839T>A	XP_006720911.1:p.Ile2280Lys
XM_011522381.2:c.6347T>A	XP_011520683.1:p.Ile2116Lys
XM_017022944.1:c.7094T>A	XP_016878433.1:p.Ile2365Lys
NM_004380.3:c.7100T>A MANE Select	NP_004371.2:p.Ile2367Lys