Canonical Allele Identifier: CA394563244

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 645503
• ClinVar RCV Id: RCV000799589
• dbSNP Id: rs1596805575
• MyVariant Identifiers: chr16:g.3786652T>C (hg19) ; chr16:g.3736651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736651T>C , CM000678.2:g.3736651T>C	GRCh38
NC_000016.9:g.3786652T>C , CM000678.1:g.3786652T>C	GRCh37
NC_000016.8:g.3726653T>C	NCBI36
NG_009873.1:g.148470A>G
NG_009873.2:g.149063A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4559A>G MANE Select	ENSP00000262367.5:p.Lys1520Arg
ENST00000262367.9:c.4559A>G	ENSP00000262367.5:p.Lys1520Arg
ENST00000382070.7:c.4445A>G	ENSP00000371502.3:p.Lys1482Arg
ENST00000570939.2:c.3194A>G	ENSP00000461002.2:p.Lys1065Arg
ENST00000571763.5:n.349A>G
ENST00000574740.1:n.380A>G
ENST00000576720.1:n.3382A>G
NM_001079846.1:c.4445A>G	NP_001073315.1:p.Lys1482Arg
NM_004380.2:c.4559A>G	NP_004371.2:p.Lys1520Arg
XM_005255124.3:c.4514A>G	XP_005255181.1:p.Lys1505Arg
XM_005255125.3:c.4142A>G	XP_005255182.1:p.Lys1381Arg
XM_006720848.2:c.4298A>G	XP_006720911.1:p.Lys1433Arg
XM_011522380.1:c.4505A>G	XP_011520682.1:p.Lys1502Arg
XM_011522381.1:c.3806A>G	XP_011520683.1:p.Lys1269Arg
XM_005255124.4:c.4514A>G	XP_005255181.1:p.Lys1505Arg
XM_005255125.4:c.4142A>G	XP_005255182.1:p.Lys1381Arg
XM_006720848.3:c.4298A>G	XP_006720911.1:p.Lys1433Arg
XM_011522381.2:c.3806A>G	XP_011520683.1:p.Lys1269Arg
XM_017022944.1:c.4553A>G	XP_016878433.1:p.Lys1518Arg
NM_004380.3:c.4559A>G MANE Select	NP_004371.2:p.Lys1520Arg