Canonical Allele Identifier: CA493394331

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310495
• gnomAD v4: 16-3729572-G-C
• COSMIC: COSM95814
• MyVariant Identifiers: chr16:g.3779573G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729572G>C , CM000678.2:g.3729572G>C	GRCh38
NC_000016.9:g.3779573G>C , CM000678.1:g.3779573G>C	GRCh37
NC_000016.8:g.3719574G>C	NCBI36
NG_009873.1:g.155549C>G
NG_009873.2:g.156142C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5475C>G MANE Select	ENSP00000262367.5:p.Leu1825=
ENST00000262367.9:c.5475C>G	ENSP00000262367.5:p.Leu1825=
ENST00000382070.7:c.5361C>G	ENSP00000371502.3:p.Leu1787=
NM_001079846.1:c.5361C>G	NP_001073315.1:p.Leu1787=
NM_004380.2:c.5475C>G	NP_004371.2:p.Leu1825=
XM_005255124.3:c.5430C>G	XP_005255181.1:p.Leu1810=
XM_005255125.3:c.5058C>G	XP_005255182.1:p.Leu1686=
XM_006720848.2:c.5214C>G	XP_006720911.1:p.Leu1738=
XM_011522380.1:c.5421C>G	XP_011520682.1:p.Leu1807=
XM_011522381.1:c.4722C>G	XP_011520683.1:p.Leu1574=
XM_005255124.4:c.5430C>G	XP_005255181.1:p.Leu1810=
XM_005255125.4:c.5058C>G	XP_005255182.1:p.Leu1686=
XM_006720848.3:c.5214C>G	XP_006720911.1:p.Leu1738=
XM_011522381.2:c.4722C>G	XP_011520683.1:p.Leu1574=
XM_017022944.1:c.5469C>G	XP_016878433.1:p.Leu1823=
NM_004380.3:c.5475C>G MANE Select	NP_004371.2:p.Leu1825=