Canonical Allele Identifier: CA493394514
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3807902G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3757901G>T , CM000678.2:g.3757901G>T GRCh38
NC_000016.9:g.3807902G>T , CM000678.1:g.3807902G>T GRCh37
NC_000016.8:g.3747903G>T NCBI36
NG_009873.1:g.127220C>A
NG_009873.2:g.127813C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.3517C>A MANE Select ENSP00000262367.5:p.Arg1173=
ENST00000262367.9:c.3517C>A ENSP00000262367.5:p.Arg1173=
ENST00000382070.7:c.3403C>A ENSP00000371502.3:p.Arg1135=
ENST00000570939.2:c.2122C>A ENSP00000461002.2:p.Arg708=
NM_001079846.1:c.3403C>A NP_001073315.1:p.Arg1135=
NM_004380.2:c.3517C>A NP_004371.2:p.Arg1173=
XM_005255124.3:c.3472C>A XP_005255181.1:p.Arg1158=
XM_005255125.3:c.3100C>A XP_005255182.1:p.Arg1034=
XM_006720848.2:c.3517C>A XP_006720911.1:p.Arg1173=
XM_011522380.1:c.3463C>A XP_011520682.1:p.Arg1155=
XM_011522381.1:c.2764C>A XP_011520683.1:p.Arg922=
XM_011522382.1:c.3517C>A XP_011520684.1:p.Arg1173=
XM_005255124.4:c.3472C>A XP_005255181.1:p.Arg1158=
XM_005255125.4:c.3100C>A XP_005255182.1:p.Arg1034=
XM_006720848.3:c.3517C>A XP_006720911.1:p.Arg1173=
XM_011522381.2:c.2764C>A XP_011520683.1:p.Arg922=
XM_011522382.3:c.3517C>A XP_011520684.1:p.Arg1173=
XM_017022944.1:c.3511C>A XP_016878433.1:p.Arg1171=
NM_004380.3:c.3517C>A MANE Select NP_004371.2:p.Arg1173=