Canonical Allele Identifier: CA493279194
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs372936553
MyVariant Identifiers: chr16:g.3786681C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736680C>G , CM000678.2:g.3736680C>G GRCh38
NC_000016.9:g.3786681C>G , CM000678.1:g.3786681C>G GRCh37
NC_000016.8:g.3726682C>G NCBI36
NG_009873.1:g.148441G>C
NG_009873.2:g.149034G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4530G>C MANE Select ENSP00000262367.5:p.Ala1510=
ENST00000262367.9:c.4530G>C ENSP00000262367.5:p.Ala1510=
ENST00000382070.7:c.4416G>C ENSP00000371502.3:p.Ala1472=
ENST00000570939.2:c.3165G>C ENSP00000461002.2:p.Ala1055=
ENST00000571763.5:n.320G>C
ENST00000574740.1:n.351G>C
ENST00000576720.1:n.3353G>C
NM_001079846.1:c.4416G>C NP_001073315.1:p.Ala1472=
NM_004380.2:c.4530G>C NP_004371.2:p.Ala1510=
XM_005255124.3:c.4485G>C XP_005255181.1:p.Ala1495=
XM_005255125.3:c.4113G>C XP_005255182.1:p.Ala1371=
XM_006720848.2:c.4269G>C XP_006720911.1:p.Ala1423=
XM_011522380.1:c.4476G>C XP_011520682.1:p.Ala1492=
XM_011522381.1:c.3777G>C XP_011520683.1:p.Ala1259=
XM_005255124.4:c.4485G>C XP_005255181.1:p.Ala1495=
XM_005255125.4:c.4113G>C XP_005255182.1:p.Ala1371=
XM_006720848.3:c.4269G>C XP_006720911.1:p.Ala1423=
XM_011522381.2:c.3777G>C XP_011520683.1:p.Ala1259=
XM_017022944.1:c.4524G>C XP_016878433.1:p.Ala1508=
NM_004380.3:c.4530G>C MANE Select NP_004371.2:p.Ala1510=