Canonical Allele Identifier: CA493394782
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3820661A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3770660A>C , CM000678.2:g.3770660A>C GRCh38
NC_000016.9:g.3820661A>C , CM000678.1:g.3820661A>C GRCh37
NC_000016.8:g.3760662A>C NCBI36
NG_009873.1:g.114461T>G
NG_009873.2:g.115054T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262367.10:c.2790T>G MANE Select ENSP00000262367.5:p.Pro930=
ENST00000262367.9:c.2790T>G ENSP00000262367.5:p.Pro930=
ENST00000382070.7:c.2676T>G ENSP00000371502.3:p.Pro892=
ENST00000570939.2:c.1395T>G ENSP00000461002.2:p.Pro465=
ENST00000573672.1:n.44T>G
NM_001079846.1:c.2676T>G NP_001073315.1:p.Pro892=
NM_004380.2:c.2790T>G NP_004371.2:p.Pro930=
XM_005255124.3:c.2745T>G XP_005255181.1:p.Pro915=
XM_005255125.3:c.2464-1307T>G XP_005255182.1:n.2464-1307T>G
XM_006720848.2:c.2790T>G XP_006720911.1:p.Pro930=
XM_011522380.1:c.2736T>G XP_011520682.1:p.Pro912=
XM_011522381.1:c.2037T>G XP_011520683.1:p.Pro679=
XM_011522382.1:c.2790T>G XP_011520684.1:p.Pro930=
XM_005255124.4:c.2745T>G XP_005255181.1:p.Pro915=
XM_005255125.4:c.2464-1307T>G XP_005255182.1:n.2464-1307T>G
XM_006720848.3:c.2790T>G XP_006720911.1:p.Pro930=
XM_011522381.2:c.2037T>G XP_011520683.1:p.Pro679=
XM_011522382.3:c.2790T>G XP_011520684.1:p.Pro930=
XM_017022944.1:c.2784T>G XP_016878433.1:p.Pro928=
NM_004380.3:c.2790T>G MANE Select NP_004371.2:p.Pro930=