Canonical Allele Identifier: CA394553678

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151304866
• MyVariant Identifiers: chr16:g.3778743T>G (hg19) ; chr16:g.3728742T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728742T>G , CM000678.2:g.3728742T>G	GRCh38
NC_000016.9:g.3778743T>G , CM000678.1:g.3778743T>G	GRCh37
NC_000016.8:g.3718744T>G	NCBI36
NG_009873.1:g.156379A>C
NG_009873.2:g.156972A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6305A>C MANE Select	ENSP00000262367.5:p.Lys2102Thr
ENST00000262367.9:c.6305A>C	ENSP00000262367.5:p.Lys2102Thr
ENST00000382070.7:c.6191A>C	ENSP00000371502.3:p.Lys2064Thr
NM_001079846.1:c.6191A>C	NP_001073315.1:p.Lys2064Thr
NM_004380.2:c.6305A>C	NP_004371.2:p.Lys2102Thr
XM_005255124.3:c.6260A>C	XP_005255181.1:p.Lys2087Thr
XM_005255125.3:c.5888A>C	XP_005255182.1:p.Lys1963Thr
XM_006720848.2:c.6044A>C	XP_006720911.1:p.Lys2015Thr
XM_011522380.1:c.6251A>C	XP_011520682.1:p.Lys2084Thr
XM_011522381.1:c.5552A>C	XP_011520683.1:p.Lys1851Thr
XM_005255124.4:c.6260A>C	XP_005255181.1:p.Lys2087Thr
XM_005255125.4:c.5888A>C	XP_005255182.1:p.Lys1963Thr
XM_006720848.3:c.6044A>C	XP_006720911.1:p.Lys2015Thr
XM_011522381.2:c.5552A>C	XP_011520683.1:p.Lys1851Thr
XM_017022944.1:c.6299A>C	XP_016878433.1:p.Lys2100Thr
NM_004380.3:c.6305A>C MANE Select	NP_004371.2:p.Lys2102Thr