Canonical Allele Identifier: CA2731570850
Gene: CREBBP HGNC NCBI

Linked Data

dbSNP Id: rs200723444

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3736844G>C , CM000678.2:g.3736844G>C GRCh38
NC_000016.9:g.3786845G>C , CM000678.1:g.3786845G>C GRCh37
NC_000016.8:g.3726846G>C NCBI36
NG_009873.1:g.148277C>G
NG_009873.2:g.148870C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.4395-29C>G MANE Select ENSP00000262367.5:n.4395-29C>G
ENST00000262367.9:c.4395-29C>G ENSP00000262367.5:n.4395-29C>G
ENST00000382070.7:c.4281-29C>G ENSP00000371502.3:n.4281-29C>G
ENST00000570939.2:c.3030-29C>G ENSP00000461002.2:n.3030-29C>G
ENST00000571763.5:n.156C>G
ENST00000574740.1:n.216-29C>G
ENST00000576720.1:n.3218-29C>G
NM_001079846.1:c.4281-29C>G NP_001073315.1:n.4281-29C>G
NM_004380.2:c.4395-29C>G NP_004371.2:n.4395-29C>G
XM_005255124.3:c.4350-29C>G XP_005255181.1:n.4350-29C>G
XM_005255125.3:c.3978-29C>G XP_005255182.1:n.3978-29C>G
XM_006720848.2:c.4134-29C>G XP_006720911.1:n.4134-29C>G
XM_011522380.1:c.4341-29C>G XP_011520682.1:n.4341-29C>G
XM_011522381.1:c.3642-29C>G XP_011520683.1:n.3642-29C>G
XM_005255124.4:c.4350-29C>G XP_005255181.1:n.4350-29C>G
XM_005255125.4:c.3978-29C>G XP_005255182.1:n.3978-29C>G
XM_006720848.3:c.4134-29C>G XP_006720911.1:n.4134-29C>G
XM_011522381.2:c.3642-29C>G XP_011520683.1:n.3642-29C>G
XM_017022944.1:c.4389-29C>G XP_016878433.1:n.4389-29C>G
NM_004380.3:c.4395-29C>G MANE Select NP_004371.2:n.4395-29C>G