Canonical Allele Identifier: CA394550976

Gene: CREBBP

Linked Data

• dbSNP Id: rs1190871113
• gnomAD v4: 16-3728070-T-G
• MyVariant Identifiers: chr16:g.3778071T>G (hg19) ; chr16:g.3728070T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728070T>G , CM000678.2:g.3728070T>G	GRCh38
NC_000016.9:g.3778071T>G , CM000678.1:g.3778071T>G	GRCh37
NC_000016.8:g.3718072T>G	NCBI36
NG_009873.1:g.157051A>C
NG_009873.2:g.157644A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6977A>C MANE Select	ENSP00000262367.5:p.Gln2326Pro
ENST00000262367.9:c.6977A>C	ENSP00000262367.5:p.Gln2326Pro
ENST00000382070.7:c.6863A>C	ENSP00000371502.3:p.Gln2288Pro
NM_001079846.1:c.6863A>C	NP_001073315.1:p.Gln2288Pro
NM_004380.2:c.6977A>C	NP_004371.2:p.Gln2326Pro
XM_005255124.3:c.6932A>C	XP_005255181.1:p.Gln2311Pro
XM_005255125.3:c.6560A>C	XP_005255182.1:p.Gln2187Pro
XM_006720848.2:c.6716A>C	XP_006720911.1:p.Gln2239Pro
XM_011522380.1:c.6923A>C	XP_011520682.1:p.Gln2308Pro
XM_011522381.1:c.6224A>C	XP_011520683.1:p.Gln2075Pro
XM_005255124.4:c.6932A>C	XP_005255181.1:p.Gln2311Pro
XM_005255125.4:c.6560A>C	XP_005255182.1:p.Gln2187Pro
XM_006720848.3:c.6716A>C	XP_006720911.1:p.Gln2239Pro
XM_011522381.2:c.6224A>C	XP_011520683.1:p.Gln2075Pro
XM_017022944.1:c.6971A>C	XP_016878433.1:p.Gln2324Pro
NM_004380.3:c.6977A>C MANE Select	NP_004371.2:p.Gln2326Pro