Canonical Allele Identifier: CA394569515

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3808901G>C (hg19) ; chr16:g.3758900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3758900G>C , CM000678.2:g.3758900G>C	GRCh38
NC_000016.9:g.3808901G>C , CM000678.1:g.3808901G>C	GRCh37
NC_000016.8:g.3748902G>C	NCBI36
NG_009873.1:g.126221C>G
NG_009873.2:g.126814C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3323C>G MANE Select	ENSP00000262367.5:p.Ser1108Ter
ENST00000262367.9:c.3323C>G	ENSP00000262367.5:p.Ser1108Ter
ENST00000382070.7:c.3209C>G	ENSP00000371502.3:p.Ser1070Ter
ENST00000570939.2:c.1928C>G	ENSP00000461002.2:p.Ser643Ter
NM_001079846.1:c.3209C>G	NP_001073315.1:p.Ser1070Ter
NM_004380.2:c.3323C>G	NP_004371.2:p.Ser1108Ter
XM_005255124.3:c.3278C>G	XP_005255181.1:p.Ser1093Ter
XM_005255125.3:c.2906C>G	XP_005255182.1:p.Ser969Ter
XM_006720848.2:c.3323C>G	XP_006720911.1:p.Ser1108Ter
XM_011522380.1:c.3269C>G	XP_011520682.1:p.Ser1090Ter
XM_011522381.1:c.2570C>G	XP_011520683.1:p.Ser857Ter
XM_011522382.1:c.3323C>G	XP_011520684.1:p.Ser1108Ter
XM_005255124.4:c.3278C>G	XP_005255181.1:p.Ser1093Ter
XM_005255125.4:c.2906C>G	XP_005255182.1:p.Ser969Ter
XM_006720848.3:c.3323C>G	XP_006720911.1:p.Ser1108Ter
XM_011522381.2:c.2570C>G	XP_011520683.1:p.Ser857Ter
XM_011522382.3:c.3323C>G	XP_011520684.1:p.Ser1108Ter
XM_017022944.1:c.3317C>G	XP_016878433.1:p.Ser1106Ter
NM_004380.3:c.3323C>G MANE Select	NP_004371.2:p.Ser1108Ter