Canonical Allele Identifier: CA394554421

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141233126
• MyVariant Identifiers: chr16:g.3828059C>G (hg19) ; chr16:g.3778058C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778058C>G , CM000678.2:g.3778058C>G	GRCh38
NC_000016.9:g.3828059C>G , CM000678.1:g.3828059C>G	GRCh37
NC_000016.8:g.3768060C>G	NCBI36
NG_009873.1:g.107063G>C
NG_009873.2:g.107656G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2066G>C MANE Select	ENSP00000262367.5:p.Gly689Ala
ENST00000262367.9:c.2066G>C	ENSP00000262367.5:p.Gly689Ala
ENST00000382070.7:c.1952G>C	ENSP00000371502.3:p.Gly651Ala
ENST00000570939.2:c.671G>C	ENSP00000461002.2:p.Gly224Ala
ENST00000571826.5:c.115G>C
ENST00000572134.1:c.379G>C
ENST00000634839.1:n.228G>C
NM_001079846.1:c.1952G>C	NP_001073315.1:p.Gly651Ala
NM_004380.2:c.2066G>C	NP_004371.2:p.Gly689Ala
XM_005255124.3:c.2066G>C	XP_005255181.1:p.Gly689Ala
XM_005255125.3:c.2066G>C	XP_005255182.1:p.Gly689Ala
XM_006720848.2:c.2066G>C	XP_006720911.1:p.Gly689Ala
XM_011522380.1:c.2012G>C	XP_011520682.1:p.Gly671Ala
XM_011522381.1:c.1313G>C	XP_011520683.1:p.Gly438Ala
XM_011522382.1:c.2066G>C	XP_011520684.1:p.Gly689Ala
XM_005255124.4:c.2066G>C	XP_005255181.1:p.Gly689Ala
XM_005255125.4:c.2066G>C	XP_005255182.1:p.Gly689Ala
XM_006720848.3:c.2066G>C	XP_006720911.1:p.Gly689Ala
XM_011522381.2:c.1313G>C	XP_011520683.1:p.Gly438Ala
XM_011522382.3:c.2066G>C	XP_011520684.1:p.Gly689Ala
XM_017022944.1:c.2066G>C	XP_016878433.1:p.Gly689Ala
NM_004380.3:c.2066G>C MANE Select	NP_004371.2:p.Gly689Ala