Canonical Allele Identifier: CA394570386

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767721T>G , CM000678.2:g.3767721T>G	GRCh38
NC_000016.9:g.3817722T>G , CM000678.1:g.3817722T>G	GRCh37
NC_000016.8:g.3757723T>G	NCBI36
NG_009873.1:g.117400A>C
NG_009873.2:g.117993A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3249A>C MANE Select	NP_004371.2:p.Lys1083Asn
ENST00000262367.10:c.3249A>C MANE Select	ENSP00000262367.5:p.Lys1083Asn
NM_001079846.1:c.3135A>C	NP_001073315.1:p.Lys1045Asn
NM_004380.2:c.3249A>C	NP_004371.2:p.Lys1083Asn
ENST00000262367.9:c.3249A>C	ENSP00000262367.5:p.Lys1083Asn
ENST00000382070.7:c.3135A>C	ENSP00000371502.3:p.Lys1045Asn
ENST00000570939.2:c.1854A>C	ENSP00000461002.2:p.Lys618Asn
ENST00000573672.1:n.503A>C
XM_005255124.3:c.3204A>C	XP_005255181.1:p.Lys1068Asn
XM_005255124.4:c.3204A>C	XP_005255181.1:p.Lys1068Asn
XM_005255125.3:c.2832A>C	XP_005255182.1:p.Lys944Asn
XM_005255125.4:c.2832A>C	XP_005255182.1:p.Lys944Asn
XM_006720848.2:c.3249A>C	XP_006720911.1:p.Lys1083Asn
XM_006720848.3:c.3249A>C	XP_006720911.1:p.Lys1083Asn
XM_011522380.1:c.3195A>C	XP_011520682.1:p.Lys1065Asn
XM_011522381.1:c.2496A>C	XP_011520683.1:p.Lys832Asn
XM_011522381.2:c.2496A>C	XP_011520683.1:p.Lys832Asn
XM_011522382.1:c.3249A>C	XP_011520684.1:p.Lys1083Asn
XM_011522382.3:c.3249A>C	XP_011520684.1:p.Lys1083Asn
XM_017022944.1:c.3243A>C	XP_016878433.1:p.Lys1081Asn