Canonical Allele Identifier: CA394567769
Community Standard Title: NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)
Gene: CREBBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3879855C>T , CM000678.2:g.3879855C>T GRCh38
NC_000016.9:g.3929856C>T , CM000678.1:g.3929856C>T GRCh37
NC_000016.8:g.3869857C>T NCBI36
NG_009873.1:g.5266G>A
NG_009873.2:g.5859G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004380.3:c.62G>A MANE Select NP_004371.2:p.Gly21Asp
ENST00000262367.10:c.62G>A MANE Select ENSP00000262367.5:p.Gly21Asp
NM_001079846.1:c.62G>A NP_001073315.1:p.Gly21Asp
NM_004380.2:c.62G>A NP_004371.2:p.Gly21Asp
ENST00000262367.9:c.62G>A ENSP00000262367.5:p.Gly21Asp
ENST00000382070.7:c.62G>A ENSP00000371502.3:p.Gly21Asp
XM_005255124.3:c.62G>A XP_005255181.1:p.Gly21Asp
XM_005255124.4:c.62G>A XP_005255181.1:p.Gly21Asp
XM_005255125.3:c.62G>A XP_005255182.1:p.Gly21Asp
XM_005255125.4:c.62G>A XP_005255182.1:p.Gly21Asp
XM_006720848.2:c.62G>A XP_006720911.1:p.Gly21Asp
XM_006720848.3:c.62G>A XP_006720911.1:p.Gly21Asp
XM_011522382.1:c.62G>A XP_011520684.1:p.Gly21Asp
XM_011522382.3:c.62G>A XP_011520684.1:p.Gly21Asp
XM_017022944.1:c.62G>A XP_016878433.1:p.Gly21Asp