Canonical Allele Identifier: CA394563253

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786653T>G (hg19) ; chr16:g.3736652T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736652T>G , CM000678.2:g.3736652T>G	GRCh38
NC_000016.9:g.3786653T>G , CM000678.1:g.3786653T>G	GRCh37
NC_000016.8:g.3726654T>G	NCBI36
NG_009873.1:g.148469A>C
NG_009873.2:g.149062A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4558A>C MANE Select	ENSP00000262367.5:p.Lys1520Gln
ENST00000262367.9:c.4558A>C	ENSP00000262367.5:p.Lys1520Gln
ENST00000382070.7:c.4444A>C	ENSP00000371502.3:p.Lys1482Gln
ENST00000570939.2:c.3193A>C	ENSP00000461002.2:p.Lys1065Gln
ENST00000571763.5:n.348A>C
ENST00000574740.1:n.379A>C
ENST00000576720.1:n.3381A>C
NM_001079846.1:c.4444A>C	NP_001073315.1:p.Lys1482Gln
NM_004380.2:c.4558A>C	NP_004371.2:p.Lys1520Gln
XM_005255124.3:c.4513A>C	XP_005255181.1:p.Lys1505Gln
XM_005255125.3:c.4141A>C	XP_005255182.1:p.Lys1381Gln
XM_006720848.2:c.4297A>C	XP_006720911.1:p.Lys1433Gln
XM_011522380.1:c.4504A>C	XP_011520682.1:p.Lys1502Gln
XM_011522381.1:c.3805A>C	XP_011520683.1:p.Lys1269Gln
XM_005255124.4:c.4513A>C	XP_005255181.1:p.Lys1505Gln
XM_005255125.4:c.4141A>C	XP_005255182.1:p.Lys1381Gln
XM_006720848.3:c.4297A>C	XP_006720911.1:p.Lys1433Gln
XM_011522381.2:c.3805A>C	XP_011520683.1:p.Lys1269Gln
XM_017022944.1:c.4552A>C	XP_016878433.1:p.Lys1518Gln
NM_004380.3:c.4558A>C MANE Select	NP_004371.2:p.Lys1520Gln