Canonical Allele Identifier: CA394553746

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778774A>C (hg19) ; chr16:g.3728773A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728773A>C , CM000678.2:g.3728773A>C	GRCh38
NC_000016.9:g.3778774A>C , CM000678.1:g.3778774A>C	GRCh37
NC_000016.8:g.3718775A>C	NCBI36
NG_009873.1:g.156348T>G
NG_009873.2:g.156941T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6274T>G MANE Select	ENSP00000262367.5:p.Ser2092Ala
ENST00000262367.9:c.6274T>G	ENSP00000262367.5:p.Ser2092Ala
ENST00000382070.7:c.6160T>G	ENSP00000371502.3:p.Ser2054Ala
NM_001079846.1:c.6160T>G	NP_001073315.1:p.Ser2054Ala
NM_004380.2:c.6274T>G	NP_004371.2:p.Ser2092Ala
XM_005255124.3:c.6229T>G	XP_005255181.1:p.Ser2077Ala
XM_005255125.3:c.5857T>G	XP_005255182.1:p.Ser1953Ala
XM_006720848.2:c.6013T>G	XP_006720911.1:p.Ser2005Ala
XM_011522380.1:c.6220T>G	XP_011520682.1:p.Ser2074Ala
XM_011522381.1:c.5521T>G	XP_011520683.1:p.Ser1841Ala
XM_005255124.4:c.6229T>G	XP_005255181.1:p.Ser2077Ala
XM_005255125.4:c.5857T>G	XP_005255182.1:p.Ser1953Ala
XM_006720848.3:c.6013T>G	XP_006720911.1:p.Ser2005Ala
XM_011522381.2:c.5521T>G	XP_011520683.1:p.Ser1841Ala
XM_017022944.1:c.6268T>G	XP_016878433.1:p.Ser2090Ala
NM_004380.3:c.6274T>G MANE Select	NP_004371.2:p.Ser2092Ala