Canonical Allele Identifier: CA2202929895
Community Standard Title: NM_004380.3(CREBBP):c.3982+1G=
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3744893C= , CM000678.2:g.3744893C= GRCh38
NC_000016.9:g.3794894C= , CM000678.1:g.3794894C= GRCh37
NC_000016.8:g.3734895C= NCBI36
NG_009873.1:g.140228G=
NG_009873.2:g.140821G=

Transcript Alleles

HGVS Amino-acid Change
NM_004380.3:c.3982+1G= MANE Select NP_004371.2:n.3982+1G=
ENST00000262367.10:c.3982+1G= MANE Select ENSP00000262367.5:n.3982+1G=
NM_001079846.1:c.3868+1G= NP_001073315.1:n.3868+1G=
NM_004380.2:c.3982+1G= NP_004371.2:n.3982+1G=
ENST00000262367.9:c.3982+1G= ENSP00000262367.5:n.3982+1G=
ENST00000382070.7:c.3868+1G= ENSP00000371502.3:n.3868+1G=
ENST00000570939.2:c.2617+1G= ENSP00000461002.2:n.2617+1G=
ENST00000572569.1:n.446+1G=
ENST00000573517.6:c.288+1G=
ENST00000574740.1:n.64+1G=
ENST00000635919.1:n.30+1G=
XM_005255124.3:c.3937+1G= XP_005255181.1:n.3937+1G=
XM_005255124.4:c.3937+1G= XP_005255181.1:n.3937+1G=
XM_005255125.3:c.3565+1G= XP_005255182.1:n.3565+1G=
XM_005255125.4:c.3565+1G= XP_005255182.1:n.3565+1G=
XM_006720848.2:c.3982+1G= XP_006720911.1:n.3982+1G=
XM_006720848.3:c.3982+1G= XP_006720911.1:n.3982+1G=
XM_011522380.1:c.3928+1G= XP_011520682.1:n.3928+1G=
XM_011522381.1:c.3229+1G= XP_011520683.1:n.3229+1G=
XM_011522381.2:c.3229+1G= XP_011520683.1:n.3229+1G=
XM_017022944.1:c.3976+1G= XP_016878433.1:n.3976+1G=