Canonical Allele Identifier: CA394554407

Gene: CREBBP

Linked Data

• dbSNP Id: rs1239051925
• gnomAD v4: 16-3728987-C-G
• MyVariant Identifiers: chr16:g.3778988C>G (hg19) ; chr16:g.3728987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728987C>G , CM000678.2:g.3728987C>G	GRCh38
NC_000016.9:g.3778988C>G , CM000678.1:g.3778988C>G	GRCh37
NC_000016.8:g.3718989C>G	NCBI36
NG_009873.1:g.156134G>C
NG_009873.2:g.156727G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6060G>C MANE Select	ENSP00000262367.5:p.Gln2020His
ENST00000262367.9:c.6060G>C	ENSP00000262367.5:p.Gln2020His
ENST00000382070.7:c.5946G>C	ENSP00000371502.3:p.Gln1982His
NM_001079846.1:c.5946G>C	NP_001073315.1:p.Gln1982His
NM_004380.2:c.6060G>C	NP_004371.2:p.Gln2020His
XM_005255124.3:c.6015G>C	XP_005255181.1:p.Gln2005His
XM_005255125.3:c.5643G>C	XP_005255182.1:p.Gln1881His
XM_006720848.2:c.5799G>C	XP_006720911.1:p.Gln1933His
XM_011522380.1:c.6006G>C	XP_011520682.1:p.Gln2002His
XM_011522381.1:c.5307G>C	XP_011520683.1:p.Gln1769His
XM_005255124.4:c.6015G>C	XP_005255181.1:p.Gln2005His
XM_005255125.4:c.5643G>C	XP_005255182.1:p.Gln1881His
XM_006720848.3:c.5799G>C	XP_006720911.1:p.Gln1933His
XM_011522381.2:c.5307G>C	XP_011520683.1:p.Gln1769His
XM_017022944.1:c.6054G>C	XP_016878433.1:p.Gln2018His
NM_004380.3:c.6060G>C MANE Select	NP_004371.2:p.Gln2020His