Canonical Allele Identifier: CA394563449

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329309
• MyVariant Identifiers: chr16:g.3786685T>C (hg19) ; chr16:g.3736684T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736684T>C , CM000678.2:g.3736684T>C	GRCh38
NC_000016.9:g.3786685T>C , CM000678.1:g.3786685T>C	GRCh37
NC_000016.8:g.3726686T>C	NCBI36
NG_009873.1:g.148437A>G
NG_009873.2:g.149030A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4526A>G MANE Select	ENSP00000262367.5:p.Lys1509Arg
ENST00000262367.9:c.4526A>G	ENSP00000262367.5:p.Lys1509Arg
ENST00000382070.7:c.4412A>G	ENSP00000371502.3:p.Lys1471Arg
ENST00000570939.2:c.3161A>G	ENSP00000461002.2:p.Lys1054Arg
ENST00000571763.5:n.316A>G
ENST00000574740.1:n.347A>G
ENST00000576720.1:n.3349A>G
NM_001079846.1:c.4412A>G	NP_001073315.1:p.Lys1471Arg
NM_004380.2:c.4526A>G	NP_004371.2:p.Lys1509Arg
XM_005255124.3:c.4481A>G	XP_005255181.1:p.Lys1494Arg
XM_005255125.3:c.4109A>G	XP_005255182.1:p.Lys1370Arg
XM_006720848.2:c.4265A>G	XP_006720911.1:p.Lys1422Arg
XM_011522380.1:c.4472A>G	XP_011520682.1:p.Lys1491Arg
XM_011522381.1:c.3773A>G	XP_011520683.1:p.Lys1258Arg
XM_005255124.4:c.4481A>G	XP_005255181.1:p.Lys1494Arg
XM_005255125.4:c.4109A>G	XP_005255182.1:p.Lys1370Arg
XM_006720848.3:c.4265A>G	XP_006720911.1:p.Lys1422Arg
XM_011522381.2:c.3773A>G	XP_011520683.1:p.Lys1258Arg
XM_017022944.1:c.4520A>G	XP_016878433.1:p.Lys1507Arg
NM_004380.3:c.4526A>G MANE Select	NP_004371.2:p.Lys1509Arg