Canonical Allele Identifier: CA394554396

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728985-C-A
• MyVariant Identifiers: chr16:g.3778986C>A (hg19) ; chr16:g.3728985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728985C>A , CM000678.2:g.3728985C>A	GRCh38
NC_000016.9:g.3778986C>A , CM000678.1:g.3778986C>A	GRCh37
NC_000016.8:g.3718987C>A	NCBI36
NG_009873.1:g.156136G>T
NG_009873.2:g.156729G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6062G>T MANE Select	ENSP00000262367.5:p.Trp2021Leu
ENST00000262367.9:c.6062G>T	ENSP00000262367.5:p.Trp2021Leu
ENST00000382070.7:c.5948G>T	ENSP00000371502.3:p.Trp1983Leu
NM_001079846.1:c.5948G>T	NP_001073315.1:p.Trp1983Leu
NM_004380.2:c.6062G>T	NP_004371.2:p.Trp2021Leu
XM_005255124.3:c.6017G>T	XP_005255181.1:p.Trp2006Leu
XM_005255125.3:c.5645G>T	XP_005255182.1:p.Trp1882Leu
XM_006720848.2:c.5801G>T	XP_006720911.1:p.Trp1934Leu
XM_011522380.1:c.6008G>T	XP_011520682.1:p.Trp2003Leu
XM_011522381.1:c.5309G>T	XP_011520683.1:p.Trp1770Leu
XM_005255124.4:c.6017G>T	XP_005255181.1:p.Trp2006Leu
XM_005255125.4:c.5645G>T	XP_005255182.1:p.Trp1882Leu
XM_006720848.3:c.5801G>T	XP_006720911.1:p.Trp1934Leu
XM_011522381.2:c.5309G>T	XP_011520683.1:p.Trp1770Leu
XM_017022944.1:c.6056G>T	XP_016878433.1:p.Trp2019Leu
NM_004380.3:c.6062G>T MANE Select	NP_004371.2:p.Trp2021Leu