Canonical Allele Identifier: CA493393880

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306303
• MyVariant Identifiers: chr16:g.3778970A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728969A>T , CM000678.2:g.3728969A>T	GRCh38
NC_000016.9:g.3778970A>T , CM000678.1:g.3778970A>T	GRCh37
NC_000016.8:g.3718971A>T	NCBI36
NG_009873.1:g.156152T>A
NG_009873.2:g.156745T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6078T>A MANE Select	ENSP00000262367.5:p.Leu2026=
ENST00000262367.9:c.6078T>A	ENSP00000262367.5:p.Leu2026=
ENST00000382070.7:c.5964T>A	ENSP00000371502.3:p.Leu1988=
NM_001079846.1:c.5964T>A	NP_001073315.1:p.Leu1988=
NM_004380.2:c.6078T>A	NP_004371.2:p.Leu2026=
XM_005255124.3:c.6033T>A	XP_005255181.1:p.Leu2011=
XM_005255125.3:c.5661T>A	XP_005255182.1:p.Leu1887=
XM_006720848.2:c.5817T>A	XP_006720911.1:p.Leu1939=
XM_011522380.1:c.6024T>A	XP_011520682.1:p.Leu2008=
XM_011522381.1:c.5325T>A	XP_011520683.1:p.Leu1775=
XM_005255124.4:c.6033T>A	XP_005255181.1:p.Leu2011=
XM_005255125.4:c.5661T>A	XP_005255182.1:p.Leu1887=
XM_006720848.3:c.5817T>A	XP_006720911.1:p.Leu1939=
XM_011522381.2:c.5325T>A	XP_011520683.1:p.Leu1775=
XM_017022944.1:c.6072T>A	XP_016878433.1:p.Leu2024=
NM_004380.3:c.6078T>A MANE Select	NP_004371.2:p.Leu2026=