Canonical Allele Identifier: CA394550066

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3727725-C-A
• MyVariant Identifiers: chr16:g.3777726C>A (hg19) ; chr16:g.3727725C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727725C>A , CM000678.2:g.3727725C>A	GRCh38
NC_000016.9:g.3777726C>A , CM000678.1:g.3777726C>A	GRCh37
NC_000016.8:g.3717727C>A	NCBI36
NG_009873.1:g.157396G>T
NG_009873.2:g.157989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7322G>T MANE Select	ENSP00000262367.5:p.Gly2441Val
ENST00000262367.9:c.7322G>T	ENSP00000262367.5:p.Gly2441Val
ENST00000382070.7:c.7208G>T	ENSP00000371502.3:p.Gly2403Val
NM_001079846.1:c.7208G>T	NP_001073315.1:p.Gly2403Val
NM_004380.2:c.7322G>T	NP_004371.2:p.Gly2441Val
XM_005255124.3:c.7277G>T	XP_005255181.1:p.Gly2426Val
XM_005255125.3:c.6905G>T	XP_005255182.1:p.Gly2302Val
XM_006720848.2:c.7061G>T	XP_006720911.1:p.Gly2354Val
XM_011522380.1:c.7268G>T	XP_011520682.1:p.Gly2423Val
XM_011522381.1:c.6569G>T	XP_011520683.1:p.Gly2190Val
XM_005255124.4:c.7277G>T	XP_005255181.1:p.Gly2426Val
XM_005255125.4:c.6905G>T	XP_005255182.1:p.Gly2302Val
XM_006720848.3:c.7061G>T	XP_006720911.1:p.Gly2354Val
XM_011522381.2:c.6569G>T	XP_011520683.1:p.Gly2190Val
XM_017022944.1:c.7316G>T	XP_016878433.1:p.Gly2439Val
NM_004380.3:c.7322G>T MANE Select	NP_004371.2:p.Gly2441Val