Canonical Allele Identifier: CA493394071

Gene: CREBBP

Linked Data

• dbSNP Id: rs766665012
• MyVariant Identifiers: chr16:g.3779498G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729497G>T , CM000678.2:g.3729497G>T	GRCh38
NC_000016.9:g.3779498G>T , CM000678.1:g.3779498G>T	GRCh37
NC_000016.8:g.3719499G>T	NCBI36
NG_009873.1:g.155624C>A
NG_009873.2:g.156217C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5550C>A MANE Select	ENSP00000262367.5:p.Leu1850=
ENST00000262367.9:c.5550C>A	ENSP00000262367.5:p.Leu1850=
ENST00000382070.7:c.5436C>A	ENSP00000371502.3:p.Leu1812=
NM_001079846.1:c.5436C>A	NP_001073315.1:p.Leu1812=
NM_004380.2:c.5550C>A	NP_004371.2:p.Leu1850=
XM_005255124.3:c.5505C>A	XP_005255181.1:p.Leu1835=
XM_005255125.3:c.5133C>A	XP_005255182.1:p.Leu1711=
XM_006720848.2:c.5289C>A	XP_006720911.1:p.Leu1763=
XM_011522380.1:c.5496C>A	XP_011520682.1:p.Leu1832=
XM_011522381.1:c.4797C>A	XP_011520683.1:p.Leu1599=
XM_005255124.4:c.5505C>A	XP_005255181.1:p.Leu1835=
XM_005255125.4:c.5133C>A	XP_005255182.1:p.Leu1711=
XM_006720848.3:c.5289C>A	XP_006720911.1:p.Leu1763=
XM_011522381.2:c.4797C>A	XP_011520683.1:p.Leu1599=
XM_017022944.1:c.5544C>A	XP_016878433.1:p.Leu1848=
NM_004380.3:c.5550C>A MANE Select	NP_004371.2:p.Leu1850=