Canonical Allele Identifier: CA394560579
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2053518270
gnomAD v3: 16-3792012-C-G
gnomAD v4: 16-3792012-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3792012C>G , CM000678.2:g.3792012C>G GRCh38
NC_000016.9:g.3842013C>G , CM000678.1:g.3842013C>G GRCh37
NC_000016.8:g.3782014C>G NCBI36
NG_009873.1:g.93109G>C
NG_009873.2:g.93702G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.1299G>C MANE Select ENSP00000262367.5:p.Leu433Phe
ENST00000262367.9:c.1299G>C ENSP00000262367.5:p.Leu433Phe
ENST00000382070.7:c.1216+1374G>C ENSP00000371502.3:n.1216+1374G>C
NM_001079846.1:c.1216+1374G>C NP_001073315.1:n.1216+1374G>C
NM_004380.2:c.1299G>C NP_004371.2:p.Leu433Phe
XM_005255124.3:c.1299G>C XP_005255181.1:p.Leu433Phe
XM_005255125.3:c.1299G>C XP_005255182.1:p.Leu433Phe
XM_006720848.2:c.1299G>C XP_006720911.1:p.Leu433Phe
XM_011522380.1:c.1245G>C XP_011520682.1:p.Leu415Phe
XM_011522381.1:c.546G>C XP_011520683.1:p.Leu182Phe
XM_011522382.1:c.1299G>C XP_011520684.1:p.Leu433Phe
XM_005255124.4:c.1299G>C XP_005255181.1:p.Leu433Phe
XM_005255125.4:c.1299G>C XP_005255182.1:p.Leu433Phe
XM_006720848.3:c.1299G>C XP_006720911.1:p.Leu433Phe
XM_011522381.2:c.546G>C XP_011520683.1:p.Leu182Phe
XM_011522382.3:c.1299G>C XP_011520684.1:p.Leu433Phe
XM_017022944.1:c.1299G>C XP_016878433.1:p.Leu433Phe
NM_004380.3:c.1299G>C MANE Select NP_004371.2:p.Leu433Phe