Canonical Allele Identifier: CA394568762
Gene: CREBBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3757907T>A , CM000678.2:g.3757907T>A GRCh38
NC_000016.9:g.3807908T>A , CM000678.1:g.3807908T>A GRCh37
NC_000016.8:g.3747909T>A NCBI36
NG_009873.1:g.127214A>T
NG_009873.2:g.127807A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.3511A>T MANE Select ENSP00000262367.5:p.Thr1171Ser
ENST00000262367.9:c.3511A>T ENSP00000262367.5:p.Thr1171Ser
ENST00000382070.7:c.3397A>T ENSP00000371502.3:p.Thr1133Ser
ENST00000570939.2:c.2116A>T ENSP00000461002.2:p.Thr706Ser
NM_001079846.1:c.3397A>T NP_001073315.1:p.Thr1133Ser
NM_004380.2:c.3511A>T NP_004371.2:p.Thr1171Ser
XM_005255124.3:c.3466A>T XP_005255181.1:p.Thr1156Ser
XM_005255125.3:c.3094A>T XP_005255182.1:p.Thr1032Ser
XM_006720848.2:c.3511A>T XP_006720911.1:p.Thr1171Ser
XM_011522380.1:c.3457A>T XP_011520682.1:p.Thr1153Ser
XM_011522381.1:c.2758A>T XP_011520683.1:p.Thr920Ser
XM_011522382.1:c.3511A>T XP_011520684.1:p.Thr1171Ser
XM_005255124.4:c.3466A>T XP_005255181.1:p.Thr1156Ser
XM_005255125.4:c.3094A>T XP_005255182.1:p.Thr1032Ser
XM_006720848.3:c.3511A>T XP_006720911.1:p.Thr1171Ser
XM_011522381.2:c.2758A>T XP_011520683.1:p.Thr920Ser
XM_011522382.3:c.3511A>T XP_011520684.1:p.Thr1171Ser
XM_017022944.1:c.3505A>T XP_016878433.1:p.Thr1169Ser
NM_004380.3:c.3511A>T MANE Select NP_004371.2:p.Thr1171Ser