Canonical Allele Identifier: CA7869420

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731859C>T , CM000678.2:g.3731859C>T	GRCh38
NC_000016.9:g.3781860C>T , CM000678.1:g.3781860C>T	GRCh37
NC_000016.8:g.3721861C>T	NCBI36
NG_009873.1:g.153262G>A
NG_009873.2:g.153855G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4807G>A MANE Select	NP_004371.2:p.Ala1603Thr
ENST00000262367.10:c.4807G>A MANE Select	ENSP00000262367.5:p.Ala1603Thr
NM_001079846.1:c.4693G>A	NP_001073315.1:p.Ala1565Thr
NM_004380.2:c.4807G>A	NP_004371.2:p.Ala1603Thr
ENST00000262367.9:c.4807G>A	ENSP00000262367.5:p.Ala1603Thr
ENST00000382070.7:c.4693G>A	ENSP00000371502.3:p.Ala1565Thr
XM_005255124.3:c.4762G>A	XP_005255181.1:p.Ala1588Thr
XM_005255124.4:c.4762G>A	XP_005255181.1:p.Ala1588Thr
XM_005255125.3:c.4390G>A	XP_005255182.1:p.Ala1464Thr
XM_005255125.4:c.4390G>A	XP_005255182.1:p.Ala1464Thr
XM_006720848.2:c.4546G>A	XP_006720911.1:p.Ala1516Thr
XM_006720848.3:c.4546G>A	XP_006720911.1:p.Ala1516Thr
XM_011522380.1:c.4753G>A	XP_011520682.1:p.Ala1585Thr
XM_011522381.1:c.4054G>A	XP_011520683.1:p.Ala1352Thr
XM_011522381.2:c.4054G>A	XP_011520683.1:p.Ala1352Thr
XM_017022944.1:c.4801G>A	XP_016878433.1:p.Ala1601Thr