Canonical Allele Identifier: CA493395106

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3770855-G-T
• MyVariant Identifiers: chr16:g.3820856G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770855G>T , CM000678.2:g.3770855G>T	GRCh38
NC_000016.9:g.3820856G>T , CM000678.1:g.3820856G>T	GRCh37
NC_000016.8:g.3760857G>T	NCBI36
NG_009873.1:g.114266C>A
NG_009873.2:g.114859C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2595C>A MANE Select	ENSP00000262367.5:p.Gly865=
ENST00000262367.9:c.2595C>A	ENSP00000262367.5:p.Gly865=
ENST00000382070.7:c.2481C>A	ENSP00000371502.3:p.Gly827=
ENST00000570939.2:c.1200C>A	ENSP00000461002.2:p.Gly400=
NM_001079846.1:c.2481C>A	NP_001073315.1:p.Gly827=
NM_004380.2:c.2595C>A	NP_004371.2:p.Gly865=
XM_005255124.3:c.2550C>A	XP_005255181.1:p.Gly850=
XM_005255125.3:c.2464-1502C>A	XP_005255182.1:n.2464-1502C>A
XM_006720848.2:c.2595C>A	XP_006720911.1:p.Gly865=
XM_011522380.1:c.2541C>A	XP_011520682.1:p.Gly847=
XM_011522381.1:c.1842C>A	XP_011520683.1:p.Gly614=
XM_011522382.1:c.2595C>A	XP_011520684.1:p.Gly865=
XM_005255124.4:c.2550C>A	XP_005255181.1:p.Gly850=
XM_005255125.4:c.2464-1502C>A	XP_005255182.1:n.2464-1502C>A
XM_006720848.3:c.2595C>A	XP_006720911.1:p.Gly865=
XM_011522381.2:c.1842C>A	XP_011520683.1:p.Gly614=
XM_011522382.3:c.2595C>A	XP_011520684.1:p.Gly865=
XM_017022944.1:c.2589C>A	XP_016878433.1:p.Gly863=
NM_004380.3:c.2595C>A MANE Select	NP_004371.2:p.Gly865=