Canonical Allele Identifier: CA493393586

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300380
• MyVariant Identifiers: chr16:g.3778112G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728111G>A , CM000678.2:g.3728111G>A	GRCh38
NC_000016.9:g.3778112G>A , CM000678.1:g.3778112G>A	GRCh37
NC_000016.8:g.3718113G>A	NCBI36
NG_009873.1:g.157010C>T
NG_009873.2:g.157603C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6936C>T MANE Select	ENSP00000262367.5:p.Asn2312=
ENST00000262367.9:c.6936C>T	ENSP00000262367.5:p.Asn2312=
ENST00000382070.7:c.6822C>T	ENSP00000371502.3:p.Asn2274=
NM_001079846.1:c.6822C>T	NP_001073315.1:p.Asn2274=
NM_004380.2:c.6936C>T	NP_004371.2:p.Asn2312=
XM_005255124.3:c.6891C>T	XP_005255181.1:p.Asn2297=
XM_005255125.3:c.6519C>T	XP_005255182.1:p.Asn2173=
XM_006720848.2:c.6675C>T	XP_006720911.1:p.Asn2225=
XM_011522380.1:c.6882C>T	XP_011520682.1:p.Asn2294=
XM_011522381.1:c.6183C>T	XP_011520683.1:p.Asn2061=
XM_005255124.4:c.6891C>T	XP_005255181.1:p.Asn2297=
XM_005255125.4:c.6519C>T	XP_005255182.1:p.Asn2173=
XM_006720848.3:c.6675C>T	XP_006720911.1:p.Asn2225=
XM_011522381.2:c.6183C>T	XP_011520683.1:p.Asn2061=
XM_017022944.1:c.6930C>T	XP_016878433.1:p.Asn2310=
NM_004380.3:c.6936C>T MANE Select	NP_004371.2:p.Asn2312=