Canonical Allele Identifier: CA394550432

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3727897-G-T
• COSMIC: COSM5850889
• MyVariant Identifiers: chr16:g.3777898G>T (hg19) ; chr16:g.3727897G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727897G>T , CM000678.2:g.3727897G>T	GRCh38
NC_000016.9:g.3777898G>T , CM000678.1:g.3777898G>T	GRCh37
NC_000016.8:g.3717899G>T	NCBI36
NG_009873.1:g.157224C>A
NG_009873.2:g.157817C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7150C>A MANE Select	ENSP00000262367.5:p.His2384Asn
ENST00000262367.9:c.7150C>A	ENSP00000262367.5:p.His2384Asn
ENST00000382070.7:c.7036C>A	ENSP00000371502.3:p.His2346Asn
NM_001079846.1:c.7036C>A	NP_001073315.1:p.His2346Asn
NM_004380.2:c.7150C>A	NP_004371.2:p.His2384Asn
XM_005255124.3:c.7105C>A	XP_005255181.1:p.His2369Asn
XM_005255125.3:c.6733C>A	XP_005255182.1:p.His2245Asn
XM_006720848.2:c.6889C>A	XP_006720911.1:p.His2297Asn
XM_011522380.1:c.7096C>A	XP_011520682.1:p.His2366Asn
XM_011522381.1:c.6397C>A	XP_011520683.1:p.His2133Asn
XM_005255124.4:c.7105C>A	XP_005255181.1:p.His2369Asn
XM_005255125.4:c.6733C>A	XP_005255182.1:p.His2245Asn
XM_006720848.3:c.6889C>A	XP_006720911.1:p.His2297Asn
XM_011522381.2:c.6397C>A	XP_011520683.1:p.His2133Asn
XM_017022944.1:c.7144C>A	XP_016878433.1:p.His2382Asn
NM_004380.3:c.7150C>A MANE Select	NP_004371.2:p.His2384Asn