Canonical Allele Identifier: CA394554585
Gene: CREBBP HGNC NCBI

Linked Data

gnomAD v4: 16-3778098-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3778098G>C , CM000678.2:g.3778098G>C GRCh38
NC_000016.9:g.3828099G>C , CM000678.1:g.3828099G>C GRCh37
NC_000016.8:g.3768100G>C NCBI36
NG_009873.1:g.107023C>G
NG_009873.2:g.107616C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.2026C>G MANE Select ENSP00000262367.5:p.Gln676Glu
ENST00000262367.9:c.2026C>G ENSP00000262367.5:p.Gln676Glu
ENST00000382070.7:c.1912C>G ENSP00000371502.3:p.Gln638Glu
ENST00000570939.2:c.631C>G ENSP00000461002.2:p.Gln211Glu
ENST00000571826.5:c.75C>G
ENST00000572134.1:c.339C>G
ENST00000634839.1:n.188C>G
NM_001079846.1:c.1912C>G NP_001073315.1:p.Gln638Glu
NM_004380.2:c.2026C>G NP_004371.2:p.Gln676Glu
XM_005255124.3:c.2026C>G XP_005255181.1:p.Gln676Glu
XM_005255125.3:c.2026C>G XP_005255182.1:p.Gln676Glu
XM_006720848.2:c.2026C>G XP_006720911.1:p.Gln676Glu
XM_011522380.1:c.1972C>G XP_011520682.1:p.Gln658Glu
XM_011522381.1:c.1273C>G XP_011520683.1:p.Gln425Glu
XM_011522382.1:c.2026C>G XP_011520684.1:p.Gln676Glu
XM_005255124.4:c.2026C>G XP_005255181.1:p.Gln676Glu
XM_005255125.4:c.2026C>G XP_005255182.1:p.Gln676Glu
XM_006720848.3:c.2026C>G XP_006720911.1:p.Gln676Glu
XM_011522381.2:c.1273C>G XP_011520683.1:p.Gln425Glu
XM_011522382.3:c.2026C>G XP_011520684.1:p.Gln676Glu
XM_017022944.1:c.2026C>G XP_016878433.1:p.Gln676Glu
NM_004380.3:c.2026C>G MANE Select NP_004371.2:p.Gln676Glu