Canonical Allele Identifier: CA394563995

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786789A>T (hg19) ; chr16:g.3736788A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736788A>T , CM000678.2:g.3736788A>T	GRCh38
NC_000016.9:g.3786789A>T , CM000678.1:g.3786789A>T	GRCh37
NC_000016.8:g.3726790A>T	NCBI36
NG_009873.1:g.148333T>A
NG_009873.2:g.148926T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4422T>A MANE Select	ENSP00000262367.5:p.Cys1474Ter
ENST00000262367.9:c.4422T>A	ENSP00000262367.5:p.Cys1474Ter
ENST00000382070.7:c.4308T>A	ENSP00000371502.3:p.Cys1436Ter
ENST00000570939.2:c.3057T>A	ENSP00000461002.2:p.Cys1019Ter
ENST00000571763.5:n.212T>A
ENST00000574740.1:n.243T>A
ENST00000576720.1:n.3245T>A
NM_001079846.1:c.4308T>A	NP_001073315.1:p.Cys1436Ter
NM_004380.2:c.4422T>A	NP_004371.2:p.Cys1474Ter
XM_005255124.3:c.4377T>A	XP_005255181.1:p.Cys1459Ter
XM_005255125.3:c.4005T>A	XP_005255182.1:p.Cys1335Ter
XM_006720848.2:c.4161T>A	XP_006720911.1:p.Cys1387Ter
XM_011522380.1:c.4368T>A	XP_011520682.1:p.Cys1456Ter
XM_011522381.1:c.3669T>A	XP_011520683.1:p.Cys1223Ter
XM_005255124.4:c.4377T>A	XP_005255181.1:p.Cys1459Ter
XM_005255125.4:c.4005T>A	XP_005255182.1:p.Cys1335Ter
XM_006720848.3:c.4161T>A	XP_006720911.1:p.Cys1387Ter
XM_011522381.2:c.3669T>A	XP_011520683.1:p.Cys1223Ter
XM_017022944.1:c.4416T>A	XP_016878433.1:p.Cys1472Ter
NM_004380.3:c.4422T>A MANE Select	NP_004371.2:p.Cys1474Ter