Canonical Allele Identifier: CA394556240

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779572A>G (hg19) ; chr16:g.3729571A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5476T>C MANE Select	ENSP00000262367.5:p.Cys1826Arg
ENST00000262367.9:c.5476T>C	ENSP00000262367.5:p.Cys1826Arg
ENST00000382070.7:c.5362T>C	ENSP00000371502.3:p.Cys1788Arg
NM_001079846.1:c.5362T>C	NP_001073315.1:p.Cys1788Arg
NM_004380.2:c.5476T>C	NP_004371.2:p.Cys1826Arg
XM_005255124.3:c.5431T>C	XP_005255181.1:p.Cys1811Arg
XM_005255125.3:c.5059T>C	XP_005255182.1:p.Cys1687Arg
XM_006720848.2:c.5215T>C	XP_006720911.1:p.Cys1739Arg
XM_011522380.1:c.5422T>C	XP_011520682.1:p.Cys1808Arg
XM_011522381.1:c.4723T>C	XP_011520683.1:p.Cys1575Arg
XM_005255124.4:c.5431T>C	XP_005255181.1:p.Cys1811Arg
XM_005255125.4:c.5059T>C	XP_005255182.1:p.Cys1687Arg
XM_006720848.3:c.5215T>C	XP_006720911.1:p.Cys1739Arg
XM_011522381.2:c.4723T>C	XP_011520683.1:p.Cys1575Arg
XM_017022944.1:c.5470T>C	XP_016878433.1:p.Cys1824Arg
NM_004380.3:c.5476T>C MANE Select	NP_004371.2:p.Cys1826Arg