Canonical Allele Identifier: CA276971636

Gene: CREBBP

Linked Data

• dbSNP Id: rs936693997
• gnomAD v4: 16-3728675-C-G
• MyVariant Identifiers: chr16:g.3778676C>G (hg19) ; chr16:g.3728675C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728675C>G , CM000678.2:g.3728675C>G	GRCh38
NC_000016.9:g.3778676C>G , CM000678.1:g.3778676C>G	GRCh37
NC_000016.8:g.3718677C>G	NCBI36
NG_009873.1:g.156446G>C
NG_009873.2:g.157039G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6372G>C MANE Select	ENSP00000262367.5:p.Gln2124His
ENST00000262367.9:c.6372G>C	ENSP00000262367.5:p.Gln2124His
ENST00000382070.7:c.6258G>C	ENSP00000371502.3:p.Gln2086His
NM_001079846.1:c.6258G>C	NP_001073315.1:p.Gln2086His
NM_004380.2:c.6372G>C	NP_004371.2:p.Gln2124His
XM_005255124.3:c.6327G>C	XP_005255181.1:p.Gln2109His
XM_005255125.3:c.5955G>C	XP_005255182.1:p.Gln1985His
XM_006720848.2:c.6111G>C	XP_006720911.1:p.Gln2037His
XM_011522380.1:c.6318G>C	XP_011520682.1:p.Gln2106His
XM_011522381.1:c.5619G>C	XP_011520683.1:p.Gln1873His
XM_005255124.4:c.6327G>C	XP_005255181.1:p.Gln2109His
XM_005255125.4:c.5955G>C	XP_005255182.1:p.Gln1985His
XM_006720848.3:c.6111G>C	XP_006720911.1:p.Gln2037His
XM_011522381.2:c.5619G>C	XP_011520683.1:p.Gln1873His
XM_017022944.1:c.6366G>C	XP_016878433.1:p.Gln2122His
NM_004380.3:c.6372G>C MANE Select	NP_004371.2:p.Gln2124His