Canonical Allele Identifier: CA394556090

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310124
• MyVariant Identifiers: chr16:g.3779517A>T (hg19) ; chr16:g.3729516A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729516A>T , CM000678.2:g.3729516A>T	GRCh38
NC_000016.9:g.3779517A>T , CM000678.1:g.3779517A>T	GRCh37
NC_000016.8:g.3719518A>T	NCBI36
NG_009873.1:g.155605T>A
NG_009873.2:g.156198T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5531T>A MANE Select	ENSP00000262367.5:p.Leu1844His
ENST00000262367.9:c.5531T>A	ENSP00000262367.5:p.Leu1844His
ENST00000382070.7:c.5417T>A	ENSP00000371502.3:p.Leu1806His
NM_001079846.1:c.5417T>A	NP_001073315.1:p.Leu1806His
NM_004380.2:c.5531T>A	NP_004371.2:p.Leu1844His
XM_005255124.3:c.5486T>A	XP_005255181.1:p.Leu1829His
XM_005255125.3:c.5114T>A	XP_005255182.1:p.Leu1705His
XM_006720848.2:c.5270T>A	XP_006720911.1:p.Leu1757His
XM_011522380.1:c.5477T>A	XP_011520682.1:p.Leu1826His
XM_011522381.1:c.4778T>A	XP_011520683.1:p.Leu1593His
XM_005255124.4:c.5486T>A	XP_005255181.1:p.Leu1829His
XM_005255125.4:c.5114T>A	XP_005255182.1:p.Leu1705His
XM_006720848.3:c.5270T>A	XP_006720911.1:p.Leu1757His
XM_011522381.2:c.4778T>A	XP_011520683.1:p.Leu1593His
XM_017022944.1:c.5525T>A	XP_016878433.1:p.Leu1842His
NM_004380.3:c.5531T>A MANE Select	NP_004371.2:p.Leu1844His