Canonical Allele Identifier: CA493393608

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300475
• MyVariant Identifiers: chr16:g.3778124T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728123T>A , CM000678.2:g.3728123T>A	GRCh38
NC_000016.9:g.3778124T>A , CM000678.1:g.3778124T>A	GRCh37
NC_000016.8:g.3718125T>A	NCBI36
NG_009873.1:g.156998A>T
NG_009873.2:g.157591A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6924A>T MANE Select	ENSP00000262367.5:p.Pro2308=
ENST00000262367.9:c.6924A>T	ENSP00000262367.5:p.Pro2308=
ENST00000382070.7:c.6810A>T	ENSP00000371502.3:p.Pro2270=
NM_001079846.1:c.6810A>T	NP_001073315.1:p.Pro2270=
NM_004380.2:c.6924A>T	NP_004371.2:p.Pro2308=
XM_005255124.3:c.6879A>T	XP_005255181.1:p.Pro2293=
XM_005255125.3:c.6507A>T	XP_005255182.1:p.Pro2169=
XM_006720848.2:c.6663A>T	XP_006720911.1:p.Pro2221=
XM_011522380.1:c.6870A>T	XP_011520682.1:p.Pro2290=
XM_011522381.1:c.6171A>T	XP_011520683.1:p.Pro2057=
XM_005255124.4:c.6879A>T	XP_005255181.1:p.Pro2293=
XM_005255125.4:c.6507A>T	XP_005255182.1:p.Pro2169=
XM_006720848.3:c.6663A>T	XP_006720911.1:p.Pro2221=
XM_011522381.2:c.6171A>T	XP_011520683.1:p.Pro2057=
XM_017022944.1:c.6918A>T	XP_016878433.1:p.Pro2306=
NM_004380.3:c.6924A>T MANE Select	NP_004371.2:p.Pro2308=