Canonical Allele Identifier: CA493279557
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs2151329912
MyVariant Identifiers: chr16:g.3786777T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736776T>C , CM000678.2:g.3736776T>C GRCh38
NC_000016.9:g.3786777T>C , CM000678.1:g.3786777T>C GRCh37
NC_000016.8:g.3726778T>C NCBI36
NG_009873.1:g.148345A>G
NG_009873.2:g.148938A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4434A>G MANE Select ENSP00000262367.5:p.Glu1478=
ENST00000262367.9:c.4434A>G ENSP00000262367.5:p.Glu1478=
ENST00000382070.7:c.4320A>G ENSP00000371502.3:p.Glu1440=
ENST00000570939.2:c.3069A>G ENSP00000461002.2:p.Glu1023=
ENST00000571763.5:n.224A>G
ENST00000574740.1:n.255A>G
ENST00000576720.1:n.3257A>G
NM_001079846.1:c.4320A>G NP_001073315.1:p.Glu1440=
NM_004380.2:c.4434A>G NP_004371.2:p.Glu1478=
XM_005255124.3:c.4389A>G XP_005255181.1:p.Glu1463=
XM_005255125.3:c.4017A>G XP_005255182.1:p.Glu1339=
XM_006720848.2:c.4173A>G XP_006720911.1:p.Glu1391=
XM_011522380.1:c.4380A>G XP_011520682.1:p.Glu1460=
XM_011522381.1:c.3681A>G XP_011520683.1:p.Glu1227=
XM_005255124.4:c.4389A>G XP_005255181.1:p.Glu1463=
XM_005255125.4:c.4017A>G XP_005255182.1:p.Glu1339=
XM_006720848.3:c.4173A>G XP_006720911.1:p.Glu1391=
XM_011522381.2:c.3681A>G XP_011520683.1:p.Glu1227=
XM_017022944.1:c.4428A>G XP_016878433.1:p.Glu1476=
NM_004380.3:c.4434A>G MANE Select NP_004371.2:p.Glu1478=