Canonical Allele Identifier: CA394550182

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3727781-G-T
• MyVariant Identifiers: chr16:g.3777782G>T (hg19) ; chr16:g.3727781G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727781G>T , CM000678.2:g.3727781G>T	GRCh38
NC_000016.9:g.3777782G>T , CM000678.1:g.3777782G>T	GRCh37
NC_000016.8:g.3717783G>T	NCBI36
NG_009873.1:g.157340C>A
NG_009873.2:g.157933C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7266C>A MANE Select	ENSP00000262367.5:p.Ser2422Arg
ENST00000262367.9:c.7266C>A	ENSP00000262367.5:p.Ser2422Arg
ENST00000382070.7:c.7152C>A	ENSP00000371502.3:p.Ser2384Arg
NM_001079846.1:c.7152C>A	NP_001073315.1:p.Ser2384Arg
NM_004380.2:c.7266C>A	NP_004371.2:p.Ser2422Arg
XM_005255124.3:c.7221C>A	XP_005255181.1:p.Ser2407Arg
XM_005255125.3:c.6849C>A	XP_005255182.1:p.Ser2283Arg
XM_006720848.2:c.7005C>A	XP_006720911.1:p.Ser2335Arg
XM_011522380.1:c.7212C>A	XP_011520682.1:p.Ser2404Arg
XM_011522381.1:c.6513C>A	XP_011520683.1:p.Ser2171Arg
XM_005255124.4:c.7221C>A	XP_005255181.1:p.Ser2407Arg
XM_005255125.4:c.6849C>A	XP_005255182.1:p.Ser2283Arg
XM_006720848.3:c.7005C>A	XP_006720911.1:p.Ser2335Arg
XM_011522381.2:c.6513C>A	XP_011520683.1:p.Ser2171Arg
XM_017022944.1:c.7260C>A	XP_016878433.1:p.Ser2420Arg
NM_004380.3:c.7266C>A MANE Select	NP_004371.2:p.Ser2422Arg