Canonical Allele Identifier: CA394550858

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299906
• MyVariant Identifiers: chr16:g.3778044A>C (hg19) ; chr16:g.3728043A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728043A>C , CM000678.2:g.3728043A>C	GRCh38
NC_000016.9:g.3778044A>C , CM000678.1:g.3778044A>C	GRCh37
NC_000016.8:g.3718045A>C	NCBI36
NG_009873.1:g.157078T>G
NG_009873.2:g.157671T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7004T>G MANE Select	ENSP00000262367.5:p.Ile2335Ser
ENST00000262367.9:c.7004T>G	ENSP00000262367.5:p.Ile2335Ser
ENST00000382070.7:c.6890T>G	ENSP00000371502.3:p.Ile2297Ser
NM_001079846.1:c.6890T>G	NP_001073315.1:p.Ile2297Ser
NM_004380.2:c.7004T>G	NP_004371.2:p.Ile2335Ser
XM_005255124.3:c.6959T>G	XP_005255181.1:p.Ile2320Ser
XM_005255125.3:c.6587T>G	XP_005255182.1:p.Ile2196Ser
XM_006720848.2:c.6743T>G	XP_006720911.1:p.Ile2248Ser
XM_011522380.1:c.6950T>G	XP_011520682.1:p.Ile2317Ser
XM_011522381.1:c.6251T>G	XP_011520683.1:p.Ile2084Ser
XM_005255124.4:c.6959T>G	XP_005255181.1:p.Ile2320Ser
XM_005255125.4:c.6587T>G	XP_005255182.1:p.Ile2196Ser
XM_006720848.3:c.6743T>G	XP_006720911.1:p.Ile2248Ser
XM_011522381.2:c.6251T>G	XP_011520683.1:p.Ile2084Ser
XM_017022944.1:c.6998T>G	XP_016878433.1:p.Ile2333Ser
NM_004380.3:c.7004T>G MANE Select	NP_004371.2:p.Ile2335Ser