Canonical Allele Identifier: CA394556239

Gene: CREBBP

Linked Data

• dbSNP Id: rs1596787467
• MyVariant Identifiers: chr16:g.3779572A>C (hg19) ; chr16:g.3729571A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729571A>C , CM000678.2:g.3729571A>C	GRCh38
NC_000016.9:g.3779572A>C , CM000678.1:g.3779572A>C	GRCh37
NC_000016.8:g.3719573A>C	NCBI36
NG_009873.1:g.155550T>G
NG_009873.2:g.156143T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5476T>G MANE Select	ENSP00000262367.5:p.Cys1826Gly
ENST00000262367.9:c.5476T>G	ENSP00000262367.5:p.Cys1826Gly
ENST00000382070.7:c.5362T>G	ENSP00000371502.3:p.Cys1788Gly
NM_001079846.1:c.5362T>G	NP_001073315.1:p.Cys1788Gly
NM_004380.2:c.5476T>G	NP_004371.2:p.Cys1826Gly
XM_005255124.3:c.5431T>G	XP_005255181.1:p.Cys1811Gly
XM_005255125.3:c.5059T>G	XP_005255182.1:p.Cys1687Gly
XM_006720848.2:c.5215T>G	XP_006720911.1:p.Cys1739Gly
XM_011522380.1:c.5422T>G	XP_011520682.1:p.Cys1808Gly
XM_011522381.1:c.4723T>G	XP_011520683.1:p.Cys1575Gly
XM_005255124.4:c.5431T>G	XP_005255181.1:p.Cys1811Gly
XM_005255125.4:c.5059T>G	XP_005255182.1:p.Cys1687Gly
XM_006720848.3:c.5215T>G	XP_006720911.1:p.Cys1739Gly
XM_011522381.2:c.4723T>G	XP_011520683.1:p.Cys1575Gly
XM_017022944.1:c.5470T>G	XP_016878433.1:p.Cys1824Gly
NM_004380.3:c.5476T>G MANE Select	NP_004371.2:p.Cys1826Gly