Canonical Allele Identifier: CA394554386

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728983-G-C
• MyVariant Identifiers: chr16:g.3778984G>C (hg19) ; chr16:g.3728983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728983G>C , CM000678.2:g.3728983G>C	GRCh38
NC_000016.9:g.3778984G>C , CM000678.1:g.3778984G>C	GRCh37
NC_000016.8:g.3718985G>C	NCBI36
NG_009873.1:g.156138C>G
NG_009873.2:g.156731C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6064C>G MANE Select	ENSP00000262367.5:p.Gln2022Glu
ENST00000262367.9:c.6064C>G	ENSP00000262367.5:p.Gln2022Glu
ENST00000382070.7:c.5950C>G	ENSP00000371502.3:p.Gln1984Glu
NM_001079846.1:c.5950C>G	NP_001073315.1:p.Gln1984Glu
NM_004380.2:c.6064C>G	NP_004371.2:p.Gln2022Glu
XM_005255124.3:c.6019C>G	XP_005255181.1:p.Gln2007Glu
XM_005255125.3:c.5647C>G	XP_005255182.1:p.Gln1883Glu
XM_006720848.2:c.5803C>G	XP_006720911.1:p.Gln1935Glu
XM_011522380.1:c.6010C>G	XP_011520682.1:p.Gln2004Glu
XM_011522381.1:c.5311C>G	XP_011520683.1:p.Gln1771Glu
XM_005255124.4:c.6019C>G	XP_005255181.1:p.Gln2007Glu
XM_005255125.4:c.5647C>G	XP_005255182.1:p.Gln1883Glu
XM_006720848.3:c.5803C>G	XP_006720911.1:p.Gln1935Glu
XM_011522381.2:c.5311C>G	XP_011520683.1:p.Gln1771Glu
XM_017022944.1:c.6058C>G	XP_016878433.1:p.Gln2020Glu
NM_004380.3:c.6064C>G MANE Select	NP_004371.2:p.Gln2022Glu