Canonical Allele Identifier: CA276968333

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3769291T>C , CM000678.2:g.3769291T>C	GRCh38
NC_000016.9:g.3819292T>C , CM000678.1:g.3819292T>C	GRCh37
NC_000016.8:g.3759293T>C	NCBI36
NG_009873.1:g.115830A>G
NG_009873.2:g.116423A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2943A>G MANE Select	NP_004371.2:p.Ala981=
ENST00000262367.10:c.2943A>G MANE Select	ENSP00000262367.5:p.Ala981=
NM_001079846.1:c.2829A>G	NP_001073315.1:p.Ala943=
NM_004380.2:c.2943A>G	NP_004371.2:p.Ala981=
ENST00000262367.9:c.2943A>G	ENSP00000262367.5:p.Ala981=
ENST00000382070.7:c.2829A>G	ENSP00000371502.3:p.Ala943=
ENST00000570939.2:c.1548A>G	ENSP00000461002.2:p.Ala516=
ENST00000573672.1:n.197A>G
XM_005255124.3:c.2898A>G	XP_005255181.1:p.Ala966=
XM_005255124.4:c.2898A>G	XP_005255181.1:p.Ala966=
XM_005255125.3:c.2526A>G	XP_005255182.1:p.Ala842=
XM_005255125.4:c.2526A>G	XP_005255182.1:p.Ala842=
XM_006720848.2:c.2943A>G	XP_006720911.1:p.Ala981=
XM_006720848.3:c.2943A>G	XP_006720911.1:p.Ala981=
XM_011522380.1:c.2889A>G	XP_011520682.1:p.Ala963=
XM_011522381.1:c.2190A>G	XP_011520683.1:p.Ala730=
XM_011522381.2:c.2190A>G	XP_011520683.1:p.Ala730=
XM_011522382.1:c.2943A>G	XP_011520684.1:p.Ala981=
XM_011522382.3:c.2943A>G	XP_011520684.1:p.Ala981=
XM_017022944.1:c.2937A>G	XP_016878433.1:p.Ala979=