Canonical Allele Identifier: CA493394149

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311293
• MyVariant Identifiers: chr16:g.3779672C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729671C>A , CM000678.2:g.3729671C>A	GRCh38
NC_000016.9:g.3779672C>A , CM000678.1:g.3779672C>A	GRCh37
NC_000016.8:g.3719673C>A	NCBI36
NG_009873.1:g.155450G>T
NG_009873.2:g.156043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5376G>T MANE Select	ENSP00000262367.5:p.Leu1792=
ENST00000262367.9:c.5376G>T	ENSP00000262367.5:p.Leu1792=
ENST00000382070.7:c.5262G>T	ENSP00000371502.3:p.Leu1754=
NM_001079846.1:c.5262G>T	NP_001073315.1:p.Leu1754=
NM_004380.2:c.5376G>T	NP_004371.2:p.Leu1792=
XM_005255124.3:c.5331G>T	XP_005255181.1:p.Leu1777=
XM_005255125.3:c.4959G>T	XP_005255182.1:p.Leu1653=
XM_006720848.2:c.5115G>T	XP_006720911.1:p.Leu1705=
XM_011522380.1:c.5322G>T	XP_011520682.1:p.Leu1774=
XM_011522381.1:c.4623G>T	XP_011520683.1:p.Leu1541=
XM_005255124.4:c.5331G>T	XP_005255181.1:p.Leu1777=
XM_005255125.4:c.4959G>T	XP_005255182.1:p.Leu1653=
XM_006720848.3:c.5115G>T	XP_006720911.1:p.Leu1705=
XM_011522381.2:c.4623G>T	XP_011520683.1:p.Leu1541=
XM_017022944.1:c.5370G>T	XP_016878433.1:p.Leu1790=
NM_004380.3:c.5376G>T MANE Select	NP_004371.2:p.Leu1792=