Canonical Allele Identifier: CA394550691
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs774932716

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727999G>A , CM000678.2:g.3727999G>A GRCh38
NC_000016.9:g.3778000G>A , CM000678.1:g.3778000G>A GRCh37
NC_000016.8:g.3718001G>A NCBI36
NG_009873.1:g.157122C>T
NG_009873.2:g.157715C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7048C>T MANE Select ENSP00000262367.5:p.Gln2350Ter
ENST00000262367.9:c.7048C>T ENSP00000262367.5:p.Gln2350Ter
ENST00000382070.7:c.6934C>T ENSP00000371502.3:p.Gln2312Ter
NM_001079846.1:c.6934C>T NP_001073315.1:p.Gln2312Ter
NM_004380.2:c.7048C>T NP_004371.2:p.Gln2350Ter
XM_005255124.3:c.7003C>T XP_005255181.1:p.Gln2335Ter
XM_005255125.3:c.6631C>T XP_005255182.1:p.Gln2211Ter
XM_006720848.2:c.6787C>T XP_006720911.1:p.Gln2263Ter
XM_011522380.1:c.6994C>T XP_011520682.1:p.Gln2332Ter
XM_011522381.1:c.6295C>T XP_011520683.1:p.Gln2099Ter
XM_005255124.4:c.7003C>T XP_005255181.1:p.Gln2335Ter
XM_005255125.4:c.6631C>T XP_005255182.1:p.Gln2211Ter
XM_006720848.3:c.6787C>T XP_006720911.1:p.Gln2263Ter
XM_011522381.2:c.6295C>T XP_011520683.1:p.Gln2099Ter
XM_017022944.1:c.7042C>T XP_016878433.1:p.Gln2348Ter
NM_004380.3:c.7048C>T MANE Select NP_004371.2:p.Gln2350Ter