Canonical Allele Identifier: CA493393077
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151298037
MyVariant Identifiers: chr16:g.3777764C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727763C>T , CM000678.2:g.3727763C>T GRCh38
NC_000016.9:g.3777764C>T , CM000678.1:g.3777764C>T GRCh37
NC_000016.8:g.3717765C>T NCBI36
NG_009873.1:g.157358G>A
NG_009873.2:g.157951G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7284G>A MANE Select ENSP00000262367.5:p.Gly2428=
ENST00000262367.9:c.7284G>A ENSP00000262367.5:p.Gly2428=
ENST00000382070.7:c.7170G>A ENSP00000371502.3:p.Gly2390=
NM_001079846.1:c.7170G>A NP_001073315.1:p.Gly2390=
NM_004380.2:c.7284G>A NP_004371.2:p.Gly2428=
XM_005255124.3:c.7239G>A XP_005255181.1:p.Gly2413=
XM_005255125.3:c.6867G>A XP_005255182.1:p.Gly2289=
XM_006720848.2:c.7023G>A XP_006720911.1:p.Gly2341=
XM_011522380.1:c.7230G>A XP_011520682.1:p.Gly2410=
XM_011522381.1:c.6531G>A XP_011520683.1:p.Gly2177=
XM_005255124.4:c.7239G>A XP_005255181.1:p.Gly2413=
XM_005255125.4:c.6867G>A XP_005255182.1:p.Gly2289=
XM_006720848.3:c.7023G>A XP_006720911.1:p.Gly2341=
XM_011522381.2:c.6531G>A XP_011520683.1:p.Gly2177=
XM_017022944.1:c.7278G>A XP_016878433.1:p.Gly2426=
NM_004380.3:c.7284G>A MANE Select NP_004371.2:p.Gly2428=