Canonical Allele Identifier: CA394554391

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728984-C-A
• MyVariant Identifiers: chr16:g.3778985C>A (hg19) ; chr16:g.3728984C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728984C>A , CM000678.2:g.3728984C>A	GRCh38
NC_000016.9:g.3778985C>A , CM000678.1:g.3778985C>A	GRCh37
NC_000016.8:g.3718986C>A	NCBI36
NG_009873.1:g.156137G>T
NG_009873.2:g.156730G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6063G>T MANE Select	ENSP00000262367.5:p.Trp2021Cys
ENST00000262367.9:c.6063G>T	ENSP00000262367.5:p.Trp2021Cys
ENST00000382070.7:c.5949G>T	ENSP00000371502.3:p.Trp1983Cys
NM_001079846.1:c.5949G>T	NP_001073315.1:p.Trp1983Cys
NM_004380.2:c.6063G>T	NP_004371.2:p.Trp2021Cys
XM_005255124.3:c.6018G>T	XP_005255181.1:p.Trp2006Cys
XM_005255125.3:c.5646G>T	XP_005255182.1:p.Trp1882Cys
XM_006720848.2:c.5802G>T	XP_006720911.1:p.Trp1934Cys
XM_011522380.1:c.6009G>T	XP_011520682.1:p.Trp2003Cys
XM_011522381.1:c.5310G>T	XP_011520683.1:p.Trp1770Cys
XM_005255124.4:c.6018G>T	XP_005255181.1:p.Trp2006Cys
XM_005255125.4:c.5646G>T	XP_005255182.1:p.Trp1882Cys
XM_006720848.3:c.5802G>T	XP_006720911.1:p.Trp1934Cys
XM_011522381.2:c.5310G>T	XP_011520683.1:p.Trp1770Cys
XM_017022944.1:c.6057G>T	XP_016878433.1:p.Trp2019Cys
NM_004380.3:c.6063G>T MANE Select	NP_004371.2:p.Trp2021Cys