Canonical Allele Identifier: CA394553954

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305692
• MyVariant Identifiers: chr16:g.3778869C>G (hg19) ; chr16:g.3728868C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728868C>G , CM000678.2:g.3728868C>G	GRCh38
NC_000016.9:g.3778869C>G , CM000678.1:g.3778869C>G	GRCh37
NC_000016.8:g.3718870C>G	NCBI36
NG_009873.1:g.156253G>C
NG_009873.2:g.156846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6179G>C MANE Select	ENSP00000262367.5:p.Arg2060Thr
ENST00000262367.9:c.6179G>C	ENSP00000262367.5:p.Arg2060Thr
ENST00000382070.7:c.6065G>C	ENSP00000371502.3:p.Arg2022Thr
NM_001079846.1:c.6065G>C	NP_001073315.1:p.Arg2022Thr
NM_004380.2:c.6179G>C	NP_004371.2:p.Arg2060Thr
XM_005255124.3:c.6134G>C	XP_005255181.1:p.Arg2045Thr
XM_005255125.3:c.5762G>C	XP_005255182.1:p.Arg1921Thr
XM_006720848.2:c.5918G>C	XP_006720911.1:p.Arg1973Thr
XM_011522380.1:c.6125G>C	XP_011520682.1:p.Arg2042Thr
XM_011522381.1:c.5426G>C	XP_011520683.1:p.Arg1809Thr
XM_005255124.4:c.6134G>C	XP_005255181.1:p.Arg2045Thr
XM_005255125.4:c.5762G>C	XP_005255182.1:p.Arg1921Thr
XM_006720848.3:c.5918G>C	XP_006720911.1:p.Arg1973Thr
XM_011522381.2:c.5426G>C	XP_011520683.1:p.Arg1809Thr
XM_017022944.1:c.6173G>C	XP_016878433.1:p.Arg2058Thr
NM_004380.3:c.6179G>C MANE Select	NP_004371.2:p.Arg2060Thr