Canonical Allele Identifier: CA394566762

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3745298T>C , CM000678.2:g.3745298T>C	GRCh38
NC_000016.9:g.3795299T>C , CM000678.1:g.3795299T>C	GRCh37
NC_000016.8:g.3735300T>C	NCBI36
NG_009873.1:g.139823A>G
NG_009873.2:g.140416A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3893A>G MANE Select	NP_004371.2:p.Tyr1298Cys
ENST00000262367.10:c.3893A>G MANE Select	ENSP00000262367.5:p.Tyr1298Cys
NM_001079846.1:c.3779A>G	NP_001073315.1:p.Tyr1260Cys
NM_004380.2:c.3893A>G	NP_004371.2:p.Tyr1298Cys
ENST00000262367.9:c.3893A>G	ENSP00000262367.5:p.Tyr1298Cys
ENST00000382070.7:c.3779A>G	ENSP00000371502.3:p.Tyr1260Cys
ENST00000570939.2:c.2528A>G	ENSP00000461002.2:p.Tyr843Cys
ENST00000572569.1:n.357A>G
ENST00000573517.6:c.199A>G
XM_005255124.3:c.3848A>G	XP_005255181.1:p.Tyr1283Cys
XM_005255124.4:c.3848A>G	XP_005255181.1:p.Tyr1283Cys
XM_005255125.3:c.3476A>G	XP_005255182.1:p.Tyr1159Cys
XM_005255125.4:c.3476A>G	XP_005255182.1:p.Tyr1159Cys
XM_006720848.2:c.3893A>G	XP_006720911.1:p.Tyr1298Cys
XM_006720848.3:c.3893A>G	XP_006720911.1:p.Tyr1298Cys
XM_011522380.1:c.3839A>G	XP_011520682.1:p.Tyr1280Cys
XM_011522381.1:c.3140A>G	XP_011520683.1:p.Tyr1047Cys
XM_011522381.2:c.3140A>G	XP_011520683.1:p.Tyr1047Cys
XM_017022944.1:c.3887A>G	XP_016878433.1:p.Tyr1296Cys