Canonical Allele Identifier: CA394551165

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300392
• MyVariant Identifiers: chr16:g.3778113T>A (hg19) ; chr16:g.3728112T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728112T>A , CM000678.2:g.3728112T>A	GRCh38
NC_000016.9:g.3778113T>A , CM000678.1:g.3778113T>A	GRCh37
NC_000016.8:g.3718114T>A	NCBI36
NG_009873.1:g.157009A>T
NG_009873.2:g.157602A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6935A>T MANE Select	ENSP00000262367.5:p.Asn2312Ile
ENST00000262367.9:c.6935A>T	ENSP00000262367.5:p.Asn2312Ile
ENST00000382070.7:c.6821A>T	ENSP00000371502.3:p.Asn2274Ile
NM_001079846.1:c.6821A>T	NP_001073315.1:p.Asn2274Ile
NM_004380.2:c.6935A>T	NP_004371.2:p.Asn2312Ile
XM_005255124.3:c.6890A>T	XP_005255181.1:p.Asn2297Ile
XM_005255125.3:c.6518A>T	XP_005255182.1:p.Asn2173Ile
XM_006720848.2:c.6674A>T	XP_006720911.1:p.Asn2225Ile
XM_011522380.1:c.6881A>T	XP_011520682.1:p.Asn2294Ile
XM_011522381.1:c.6182A>T	XP_011520683.1:p.Asn2061Ile
XM_005255124.4:c.6890A>T	XP_005255181.1:p.Asn2297Ile
XM_005255125.4:c.6518A>T	XP_005255182.1:p.Asn2173Ile
XM_006720848.3:c.6674A>T	XP_006720911.1:p.Asn2225Ile
XM_011522381.2:c.6182A>T	XP_011520683.1:p.Asn2061Ile
XM_017022944.1:c.6929A>T	XP_016878433.1:p.Asn2310Ile
NM_004380.3:c.6935A>T MANE Select	NP_004371.2:p.Asn2312Ile