Canonical Allele Identifier: CA493393624

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151304681
• MyVariant Identifiers: chr16:g.3778718G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728717G>T , CM000678.2:g.3728717G>T	GRCh38
NC_000016.9:g.3778718G>T , CM000678.1:g.3778718G>T	GRCh37
NC_000016.8:g.3718719G>T	NCBI36
NG_009873.1:g.156404C>A
NG_009873.2:g.156997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6330C>A MANE Select	ENSP00000262367.5:p.Ala2110=
ENST00000262367.9:c.6330C>A	ENSP00000262367.5:p.Ala2110=
ENST00000382070.7:c.6216C>A	ENSP00000371502.3:p.Ala2072=
NM_001079846.1:c.6216C>A	NP_001073315.1:p.Ala2072=
NM_004380.2:c.6330C>A	NP_004371.2:p.Ala2110=
XM_005255124.3:c.6285C>A	XP_005255181.1:p.Ala2095=
XM_005255125.3:c.5913C>A	XP_005255182.1:p.Ala1971=
XM_006720848.2:c.6069C>A	XP_006720911.1:p.Ala2023=
XM_011522380.1:c.6276C>A	XP_011520682.1:p.Ala2092=
XM_011522381.1:c.5577C>A	XP_011520683.1:p.Ala1859=
XM_005255124.4:c.6285C>A	XP_005255181.1:p.Ala2095=
XM_005255125.4:c.5913C>A	XP_005255182.1:p.Ala1971=
XM_006720848.3:c.6069C>A	XP_006720911.1:p.Ala2023=
XM_011522381.2:c.5577C>A	XP_011520683.1:p.Ala1859=
XM_017022944.1:c.6324C>A	XP_016878433.1:p.Ala2108=
NM_004380.3:c.6330C>A MANE Select	NP_004371.2:p.Ala2110=