Canonical Allele Identifier: CA394563440

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329292
• MyVariant Identifiers: chr16:g.3786683C>T (hg19) ; chr16:g.3736682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736682C>T , CM000678.2:g.3736682C>T	GRCh38
NC_000016.9:g.3786683C>T , CM000678.1:g.3786683C>T	GRCh37
NC_000016.8:g.3726684C>T	NCBI36
NG_009873.1:g.148439G>A
NG_009873.2:g.149032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4528G>A MANE Select	ENSP00000262367.5:p.Ala1510Thr
ENST00000262367.9:c.4528G>A	ENSP00000262367.5:p.Ala1510Thr
ENST00000382070.7:c.4414G>A	ENSP00000371502.3:p.Ala1472Thr
ENST00000570939.2:c.3163G>A	ENSP00000461002.2:p.Ala1055Thr
ENST00000571763.5:n.318G>A
ENST00000574740.1:n.349G>A
ENST00000576720.1:n.3351G>A
NM_001079846.1:c.4414G>A	NP_001073315.1:p.Ala1472Thr
NM_004380.2:c.4528G>A	NP_004371.2:p.Ala1510Thr
XM_005255124.3:c.4483G>A	XP_005255181.1:p.Ala1495Thr
XM_005255125.3:c.4111G>A	XP_005255182.1:p.Ala1371Thr
XM_006720848.2:c.4267G>A	XP_006720911.1:p.Ala1423Thr
XM_011522380.1:c.4474G>A	XP_011520682.1:p.Ala1492Thr
XM_011522381.1:c.3775G>A	XP_011520683.1:p.Ala1259Thr
XM_005255124.4:c.4483G>A	XP_005255181.1:p.Ala1495Thr
XM_005255125.4:c.4111G>A	XP_005255182.1:p.Ala1371Thr
XM_006720848.3:c.4267G>A	XP_006720911.1:p.Ala1423Thr
XM_011522381.2:c.3775G>A	XP_011520683.1:p.Ala1259Thr
XM_017022944.1:c.4522G>A	XP_016878433.1:p.Ala1508Thr
NM_004380.3:c.4528G>A MANE Select	NP_004371.2:p.Ala1510Thr