Canonical Allele Identifier: CA394556025

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2104259
• ClinVar RCV Id: RCV003022450
• dbSNP Id: rs2151309931
• MyVariant Identifiers: chr16:g.3779491G>C (hg19) ; chr16:g.3729490G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729490G>C , CM000678.2:g.3729490G>C	GRCh38
NC_000016.9:g.3779491G>C , CM000678.1:g.3779491G>C	GRCh37
NC_000016.8:g.3719492G>C	NCBI36
NG_009873.1:g.155631C>G
NG_009873.2:g.156224C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5557C>G MANE Select	ENSP00000262367.5:p.Gln1853Glu
ENST00000262367.9:c.5557C>G	ENSP00000262367.5:p.Gln1853Glu
ENST00000382070.7:c.5443C>G	ENSP00000371502.3:p.Gln1815Glu
NM_001079846.1:c.5443C>G	NP_001073315.1:p.Gln1815Glu
NM_004380.2:c.5557C>G	NP_004371.2:p.Gln1853Glu
XM_005255124.3:c.5512C>G	XP_005255181.1:p.Gln1838Glu
XM_005255125.3:c.5140C>G	XP_005255182.1:p.Gln1714Glu
XM_006720848.2:c.5296C>G	XP_006720911.1:p.Gln1766Glu
XM_011522380.1:c.5503C>G	XP_011520682.1:p.Gln1835Glu
XM_011522381.1:c.4804C>G	XP_011520683.1:p.Gln1602Glu
XM_005255124.4:c.5512C>G	XP_005255181.1:p.Gln1838Glu
XM_005255125.4:c.5140C>G	XP_005255182.1:p.Gln1714Glu
XM_006720848.3:c.5296C>G	XP_006720911.1:p.Gln1766Glu
XM_011522381.2:c.4804C>G	XP_011520683.1:p.Gln1602Glu
XM_017022944.1:c.5551C>G	XP_016878433.1:p.Gln1851Glu
NM_004380.3:c.5557C>G MANE Select	NP_004371.2:p.Gln1853Glu