Canonical Allele Identifier: CA276980075

Gene: CREBBP

Linked Data

• dbSNP Id: rs199817036
• COSMIC: COSM4495171
• MyVariant Identifiers: chr16:g.3786731G>T (hg19) ; chr16:g.3736730G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736730G>T , CM000678.2:g.3736730G>T	GRCh38
NC_000016.9:g.3786731G>T , CM000678.1:g.3786731G>T	GRCh37
NC_000016.8:g.3726732G>T	NCBI36
NG_009873.1:g.148391C>A
NG_009873.2:g.148984C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4480C>A MANE Select	ENSP00000262367.5:p.Pro1494Thr
ENST00000262367.9:c.4480C>A	ENSP00000262367.5:p.Pro1494Thr
ENST00000382070.7:c.4366C>A	ENSP00000371502.3:p.Pro1456Thr
ENST00000570939.2:c.3115C>A	ENSP00000461002.2:p.Pro1039Thr
ENST00000571763.5:n.270C>A
ENST00000574740.1:n.301C>A
ENST00000576720.1:n.3303C>A
NM_001079846.1:c.4366C>A	NP_001073315.1:p.Pro1456Thr
NM_004380.2:c.4480C>A	NP_004371.2:p.Pro1494Thr
XM_005255124.3:c.4435C>A	XP_005255181.1:p.Pro1479Thr
XM_005255125.3:c.4063C>A	XP_005255182.1:p.Pro1355Thr
XM_006720848.2:c.4219C>A	XP_006720911.1:p.Pro1407Thr
XM_011522380.1:c.4426C>A	XP_011520682.1:p.Pro1476Thr
XM_011522381.1:c.3727C>A	XP_011520683.1:p.Pro1243Thr
XM_005255124.4:c.4435C>A	XP_005255181.1:p.Pro1479Thr
XM_005255125.4:c.4063C>A	XP_005255182.1:p.Pro1355Thr
XM_006720848.3:c.4219C>A	XP_006720911.1:p.Pro1407Thr
XM_011522381.2:c.3727C>A	XP_011520683.1:p.Pro1243Thr
XM_017022944.1:c.4474C>A	XP_016878433.1:p.Pro1492Thr
NM_004380.3:c.4480C>A MANE Select	NP_004371.2:p.Pro1494Thr