Canonical Allele Identifier: CA394554113
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151305914

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3728911C>G , CM000678.2:g.3728911C>G GRCh38
NC_000016.9:g.3778912C>G , CM000678.1:g.3778912C>G GRCh37
NC_000016.8:g.3718913C>G NCBI36
NG_009873.1:g.156210G>C
NG_009873.2:g.156803G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.6136G>C MANE Select ENSP00000262367.5:p.Ala2046Pro
ENST00000262367.9:c.6136G>C ENSP00000262367.5:p.Ala2046Pro
ENST00000382070.7:c.6022G>C ENSP00000371502.3:p.Ala2008Pro
NM_001079846.1:c.6022G>C NP_001073315.1:p.Ala2008Pro
NM_004380.2:c.6136G>C NP_004371.2:p.Ala2046Pro
XM_005255124.3:c.6091G>C XP_005255181.1:p.Ala2031Pro
XM_005255125.3:c.5719G>C XP_005255182.1:p.Ala1907Pro
XM_006720848.2:c.5875G>C XP_006720911.1:p.Ala1959Pro
XM_011522380.1:c.6082G>C XP_011520682.1:p.Ala2028Pro
XM_011522381.1:c.5383G>C XP_011520683.1:p.Ala1795Pro
XM_005255124.4:c.6091G>C XP_005255181.1:p.Ala2031Pro
XM_005255125.4:c.5719G>C XP_005255182.1:p.Ala1907Pro
XM_006720848.3:c.5875G>C XP_006720911.1:p.Ala1959Pro
XM_011522381.2:c.5383G>C XP_011520683.1:p.Ala1795Pro
XM_017022944.1:c.6130G>C XP_016878433.1:p.Ala2044Pro
NM_004380.3:c.6136G>C MANE Select NP_004371.2:p.Ala2046Pro