Canonical Allele Identifier: CA222689

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3769284T>A , CM000678.2:g.3769284T>A	GRCh38
NC_000016.9:g.3819285T>A , CM000678.1:g.3819285T>A	GRCh37
NC_000016.8:g.3759286T>A	NCBI36
NG_009873.1:g.115837A>T
NG_009873.2:g.116430A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2950A>T MANE Select	NP_004371.2:p.Asn984Tyr
ENST00000262367.10:c.2950A>T MANE Select	ENSP00000262367.5:p.Asn984Tyr
NM_001079846.1:c.2836A>T	NP_001073315.1:p.Asn946Tyr
NM_004380.2:c.2950A>T	NP_004371.2:p.Asn984Tyr
ENST00000262367.9:c.2950A>T	ENSP00000262367.5:p.Asn984Tyr
ENST00000382070.7:c.2836A>T	ENSP00000371502.3:p.Asn946Tyr
ENST00000570939.2:c.1555A>T	ENSP00000461002.2:p.Asn519Tyr
ENST00000573672.1:n.204A>T
XM_005255124.3:c.2905A>T	XP_005255181.1:p.Asn969Tyr
XM_005255124.4:c.2905A>T	XP_005255181.1:p.Asn969Tyr
XM_005255125.3:c.2533A>T	XP_005255182.1:p.Asn845Tyr
XM_005255125.4:c.2533A>T	XP_005255182.1:p.Asn845Tyr
XM_006720848.2:c.2950A>T	XP_006720911.1:p.Asn984Tyr
XM_006720848.3:c.2950A>T	XP_006720911.1:p.Asn984Tyr
XM_011522380.1:c.2896A>T	XP_011520682.1:p.Asn966Tyr
XM_011522381.1:c.2197A>T	XP_011520683.1:p.Asn733Tyr
XM_011522381.2:c.2197A>T	XP_011520683.1:p.Asn733Tyr
XM_011522382.1:c.2950A>T	XP_011520684.1:p.Asn984Tyr
XM_011522382.3:c.2950A>T	XP_011520684.1:p.Asn984Tyr
XM_017022944.1:c.2944A>T	XP_016878433.1:p.Asn982Tyr