Canonical Allele Identifier: CA394553677

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151304857
• MyVariant Identifiers: chr16:g.3778742T>G (hg19) ; chr16:g.3728741T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728741T>G , CM000678.2:g.3728741T>G	GRCh38
NC_000016.9:g.3778742T>G , CM000678.1:g.3778742T>G	GRCh37
NC_000016.8:g.3718743T>G	NCBI36
NG_009873.1:g.156380A>C
NG_009873.2:g.156973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6306A>C MANE Select	ENSP00000262367.5:p.Lys2102Asn
ENST00000262367.9:c.6306A>C	ENSP00000262367.5:p.Lys2102Asn
ENST00000382070.7:c.6192A>C	ENSP00000371502.3:p.Lys2064Asn
NM_001079846.1:c.6192A>C	NP_001073315.1:p.Lys2064Asn
NM_004380.2:c.6306A>C	NP_004371.2:p.Lys2102Asn
XM_005255124.3:c.6261A>C	XP_005255181.1:p.Lys2087Asn
XM_005255125.3:c.5889A>C	XP_005255182.1:p.Lys1963Asn
XM_006720848.2:c.6045A>C	XP_006720911.1:p.Lys2015Asn
XM_011522380.1:c.6252A>C	XP_011520682.1:p.Lys2084Asn
XM_011522381.1:c.5553A>C	XP_011520683.1:p.Lys1851Asn
XM_005255124.4:c.6261A>C	XP_005255181.1:p.Lys2087Asn
XM_005255125.4:c.5889A>C	XP_005255182.1:p.Lys1963Asn
XM_006720848.3:c.6045A>C	XP_006720911.1:p.Lys2015Asn
XM_011522381.2:c.5553A>C	XP_011520683.1:p.Lys1851Asn
XM_017022944.1:c.6300A>C	XP_016878433.1:p.Lys2100Asn
NM_004380.3:c.6306A>C MANE Select	NP_004371.2:p.Lys2102Asn