Canonical Allele Identifier: CA394554146

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305979
• gnomAD v4: 16-3728919-T-C
• MyVariant Identifiers: chr16:g.3778920T>C (hg19) ; chr16:g.3728919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728919T>C , CM000678.2:g.3728919T>C	GRCh38
NC_000016.9:g.3778920T>C , CM000678.1:g.3778920T>C	GRCh37
NC_000016.8:g.3718921T>C	NCBI36
NG_009873.1:g.156202A>G
NG_009873.2:g.156795A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6128A>G MANE Select	ENSP00000262367.5:p.Gln2043Arg
ENST00000262367.9:c.6128A>G	ENSP00000262367.5:p.Gln2043Arg
ENST00000382070.7:c.6014A>G	ENSP00000371502.3:p.Gln2005Arg
NM_001079846.1:c.6014A>G	NP_001073315.1:p.Gln2005Arg
NM_004380.2:c.6128A>G	NP_004371.2:p.Gln2043Arg
XM_005255124.3:c.6083A>G	XP_005255181.1:p.Gln2028Arg
XM_005255125.3:c.5711A>G	XP_005255182.1:p.Gln1904Arg
XM_006720848.2:c.5867A>G	XP_006720911.1:p.Gln1956Arg
XM_011522380.1:c.6074A>G	XP_011520682.1:p.Gln2025Arg
XM_011522381.1:c.5375A>G	XP_011520683.1:p.Gln1792Arg
XM_005255124.4:c.6083A>G	XP_005255181.1:p.Gln2028Arg
XM_005255125.4:c.5711A>G	XP_005255182.1:p.Gln1904Arg
XM_006720848.3:c.5867A>G	XP_006720911.1:p.Gln1956Arg
XM_011522381.2:c.5375A>G	XP_011520683.1:p.Gln1792Arg
XM_017022944.1:c.6122A>G	XP_016878433.1:p.Gln2041Arg
NM_004380.3:c.6128A>G MANE Select	NP_004371.2:p.Gln2043Arg