Canonical Allele Identifier: CA394554565

Gene: CREBBP

Linked Data

• dbSNP Id: rs1444108946
• gnomAD v4: 16-3729026-C-A
• MyVariant Identifiers: chr16:g.3779027C>A (hg19) ; chr16:g.3729026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729026C>A , CM000678.2:g.3729026C>A	GRCh38
NC_000016.9:g.3779027C>A , CM000678.1:g.3779027C>A	GRCh37
NC_000016.8:g.3719028C>A	NCBI36
NG_009873.1:g.156095G>T
NG_009873.2:g.156688G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6021G>T MANE Select	ENSP00000262367.5:p.Gln2007His
ENST00000262367.9:c.6021G>T	ENSP00000262367.5:p.Gln2007His
ENST00000382070.7:c.5907G>T	ENSP00000371502.3:p.Gln1969His
NM_001079846.1:c.5907G>T	NP_001073315.1:p.Gln1969His
NM_004380.2:c.6021G>T	NP_004371.2:p.Gln2007His
XM_005255124.3:c.5976G>T	XP_005255181.1:p.Gln1992His
XM_005255125.3:c.5604G>T	XP_005255182.1:p.Gln1868His
XM_006720848.2:c.5760G>T	XP_006720911.1:p.Gln1920His
XM_011522380.1:c.5967G>T	XP_011520682.1:p.Gln1989His
XM_011522381.1:c.5268G>T	XP_011520683.1:p.Gln1756His
XM_005255124.4:c.5976G>T	XP_005255181.1:p.Gln1992His
XM_005255125.4:c.5604G>T	XP_005255182.1:p.Gln1868His
XM_006720848.3:c.5760G>T	XP_006720911.1:p.Gln1920His
XM_011522381.2:c.5268G>T	XP_011520683.1:p.Gln1756His
XM_017022944.1:c.6015G>T	XP_016878433.1:p.Gln2005His
NM_004380.3:c.6021G>T MANE Select	NP_004371.2:p.Gln2007His