Canonical Allele Identifier: CA394550570

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2504347
• ClinVar RCV Id: RCV003231808
• dbSNP Id: rs2151299388
• MyVariant Identifiers: chr16:g.3777966G>C (hg19) ; chr16:g.3727965G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727965G>C , CM000678.2:g.3727965G>C	GRCh38
NC_000016.9:g.3777966G>C , CM000678.1:g.3777966G>C	GRCh37
NC_000016.8:g.3717967G>C	NCBI36
NG_009873.1:g.157156C>G
NG_009873.2:g.157749C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7082C>G MANE Select	ENSP00000262367.5:p.Ser2361Cys
ENST00000262367.9:c.7082C>G	ENSP00000262367.5:p.Ser2361Cys
ENST00000382070.7:c.6968C>G	ENSP00000371502.3:p.Ser2323Cys
NM_001079846.1:c.6968C>G	NP_001073315.1:p.Ser2323Cys
NM_004380.2:c.7082C>G	NP_004371.2:p.Ser2361Cys
XM_005255124.3:c.7037C>G	XP_005255181.1:p.Ser2346Cys
XM_005255125.3:c.6665C>G	XP_005255182.1:p.Ser2222Cys
XM_006720848.2:c.6821C>G	XP_006720911.1:p.Ser2274Cys
XM_011522380.1:c.7028C>G	XP_011520682.1:p.Ser2343Cys
XM_011522381.1:c.6329C>G	XP_011520683.1:p.Ser2110Cys
XM_005255124.4:c.7037C>G	XP_005255181.1:p.Ser2346Cys
XM_005255125.4:c.6665C>G	XP_005255182.1:p.Ser2222Cys
XM_006720848.3:c.6821C>G	XP_006720911.1:p.Ser2274Cys
XM_011522381.2:c.6329C>G	XP_011520683.1:p.Ser2110Cys
XM_017022944.1:c.7076C>G	XP_016878433.1:p.Ser2359Cys
NM_004380.3:c.7082C>G MANE Select	NP_004371.2:p.Ser2361Cys