Canonical Allele Identifier: CA394563295

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786660A>C (hg19) ; chr16:g.3736659A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736659A>C , CM000678.2:g.3736659A>C	GRCh38
NC_000016.9:g.3786660A>C , CM000678.1:g.3786660A>C	GRCh37
NC_000016.8:g.3726661A>C	NCBI36
NG_009873.1:g.148462T>G
NG_009873.2:g.149055T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4551T>G MANE Select	ENSP00000262367.5:p.His1517Gln
ENST00000262367.9:c.4551T>G	ENSP00000262367.5:p.His1517Gln
ENST00000382070.7:c.4437T>G	ENSP00000371502.3:p.His1479Gln
ENST00000570939.2:c.3186T>G	ENSP00000461002.2:p.His1062Gln
ENST00000571763.5:n.341T>G
ENST00000574740.1:n.372T>G
ENST00000576720.1:n.3374T>G
NM_001079846.1:c.4437T>G	NP_001073315.1:p.His1479Gln
NM_004380.2:c.4551T>G	NP_004371.2:p.His1517Gln
XM_005255124.3:c.4506T>G	XP_005255181.1:p.His1502Gln
XM_005255125.3:c.4134T>G	XP_005255182.1:p.His1378Gln
XM_006720848.2:c.4290T>G	XP_006720911.1:p.His1430Gln
XM_011522380.1:c.4497T>G	XP_011520682.1:p.His1499Gln
XM_011522381.1:c.3798T>G	XP_011520683.1:p.His1266Gln
XM_005255124.4:c.4506T>G	XP_005255181.1:p.His1502Gln
XM_005255125.4:c.4134T>G	XP_005255182.1:p.His1378Gln
XM_006720848.3:c.4290T>G	XP_006720911.1:p.His1430Gln
XM_011522381.2:c.3798T>G	XP_011520683.1:p.His1266Gln
XM_017022944.1:c.4545T>G	XP_016878433.1:p.His1515Gln
NM_004380.3:c.4551T>G MANE Select	NP_004371.2:p.His1517Gln