Canonical Allele Identifier: CA493277620

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3810678-T-C
• MyVariant Identifiers: chr16:g.3860679T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810678T>C , CM000678.2:g.3810678T>C	GRCh38
NC_000016.9:g.3860679T>C , CM000678.1:g.3860679T>C	GRCh37
NC_000016.8:g.3800680T>C	NCBI36
NG_009873.1:g.74443A>G
NG_009873.2:g.75036A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.900A>G MANE Select	ENSP00000262367.5:p.Lys300=
ENST00000262367.9:c.900A>G	ENSP00000262367.5:p.Lys300=
ENST00000382070.7:c.900A>G	ENSP00000371502.3:p.Lys300=
NM_001079846.1:c.900A>G	NP_001073315.1:p.Lys300=
NM_004380.2:c.900A>G	NP_004371.2:p.Lys300=
XM_005255124.3:c.900A>G	XP_005255181.1:p.Lys300=
XM_005255125.3:c.900A>G	XP_005255182.1:p.Lys300=
XM_006720848.2:c.900A>G	XP_006720911.1:p.Lys300=
XM_011522380.1:c.846A>G	XP_011520682.1:p.Lys282=
XM_011522381.1:c.147A>G	XP_011520683.1:p.Lys49=
XM_011522382.1:c.900A>G	XP_011520684.1:p.Lys300=
XM_005255124.4:c.900A>G	XP_005255181.1:p.Lys300=
XM_005255125.4:c.900A>G	XP_005255182.1:p.Lys300=
XM_006720848.3:c.900A>G	XP_006720911.1:p.Lys300=
XM_011522381.2:c.147A>G	XP_011520683.1:p.Lys49=
XM_011522382.3:c.900A>G	XP_011520684.1:p.Lys300=
XM_017022944.1:c.900A>G	XP_016878433.1:p.Lys300=
NM_004380.3:c.900A>G MANE Select	NP_004371.2:p.Lys300=