Canonical Allele Identifier: CA493393639

Gene: CREBBP

Linked Data

• dbSNP Id: rs780441901
• gnomAD v2: 16-3778745-G-T
• gnomAD v4: 16-3728744-G-T
• MyVariant Identifiers: chr16:g.3778745G>T (hg19) ; chr16:g.3728744G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728744G>T , CM000678.2:g.3728744G>T	GRCh38
NC_000016.9:g.3778745G>T , CM000678.1:g.3778745G>T	GRCh37
NC_000016.8:g.3718746G>T	NCBI36
NG_009873.1:g.156377C>A
NG_009873.2:g.156970C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6303C>A MANE Select	ENSP00000262367.5:p.Ile2101=
ENST00000262367.9:c.6303C>A	ENSP00000262367.5:p.Ile2101=
ENST00000382070.7:c.6189C>A	ENSP00000371502.3:p.Ile2063=
NM_001079846.1:c.6189C>A	NP_001073315.1:p.Ile2063=
NM_004380.2:c.6303C>A	NP_004371.2:p.Ile2101=
XM_005255124.3:c.6258C>A	XP_005255181.1:p.Ile2086=
XM_005255125.3:c.5886C>A	XP_005255182.1:p.Ile1962=
XM_006720848.2:c.6042C>A	XP_006720911.1:p.Ile2014=
XM_011522380.1:c.6249C>A	XP_011520682.1:p.Ile2083=
XM_011522381.1:c.5550C>A	XP_011520683.1:p.Ile1850=
XM_005255124.4:c.6258C>A	XP_005255181.1:p.Ile2086=
XM_005255125.4:c.5886C>A	XP_005255182.1:p.Ile1962=
XM_006720848.3:c.6042C>A	XP_006720911.1:p.Ile2014=
XM_011522381.2:c.5550C>A	XP_011520683.1:p.Ile1850=
XM_017022944.1:c.6297C>A	XP_016878433.1:p.Ile2099=
NM_004380.3:c.6303C>A MANE Select	NP_004371.2:p.Ile2101=