Canonical Allele Identifier: CA493393718

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305562
• MyVariant Identifiers: chr16:g.3778850A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728849A>T , CM000678.2:g.3728849A>T	GRCh38
NC_000016.9:g.3778850A>T , CM000678.1:g.3778850A>T	GRCh37
NC_000016.8:g.3718851A>T	NCBI36
NG_009873.1:g.156272T>A
NG_009873.2:g.156865T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6198T>A MANE Select	ENSP00000262367.5:p.Ala2066=
ENST00000262367.9:c.6198T>A	ENSP00000262367.5:p.Ala2066=
ENST00000382070.7:c.6084T>A	ENSP00000371502.3:p.Ala2028=
NM_001079846.1:c.6084T>A	NP_001073315.1:p.Ala2028=
NM_004380.2:c.6198T>A	NP_004371.2:p.Ala2066=
XM_005255124.3:c.6153T>A	XP_005255181.1:p.Ala2051=
XM_005255125.3:c.5781T>A	XP_005255182.1:p.Ala1927=
XM_006720848.2:c.5937T>A	XP_006720911.1:p.Ala1979=
XM_011522380.1:c.6144T>A	XP_011520682.1:p.Ala2048=
XM_011522381.1:c.5445T>A	XP_011520683.1:p.Ala1815=
XM_005255124.4:c.6153T>A	XP_005255181.1:p.Ala2051=
XM_005255125.4:c.5781T>A	XP_005255182.1:p.Ala1927=
XM_006720848.3:c.5937T>A	XP_006720911.1:p.Ala1979=
XM_011522381.2:c.5445T>A	XP_011520683.1:p.Ala1815=
XM_017022944.1:c.6192T>A	XP_016878433.1:p.Ala2064=
NM_004380.3:c.6198T>A MANE Select	NP_004371.2:p.Ala2066=