Canonical Allele Identifier: CA394563319

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786662G>T (hg19) ; chr16:g.3736661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736661G>T , CM000678.2:g.3736661G>T	GRCh38
NC_000016.9:g.3786662G>T , CM000678.1:g.3786662G>T	GRCh37
NC_000016.8:g.3726663G>T	NCBI36
NG_009873.1:g.148460C>A
NG_009873.2:g.149053C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4549C>A MANE Select	ENSP00000262367.5:p.His1517Asn
ENST00000262367.9:c.4549C>A	ENSP00000262367.5:p.His1517Asn
ENST00000382070.7:c.4435C>A	ENSP00000371502.3:p.His1479Asn
ENST00000570939.2:c.3184C>A	ENSP00000461002.2:p.His1062Asn
ENST00000571763.5:n.339C>A
ENST00000574740.1:n.370C>A
ENST00000576720.1:n.3372C>A
NM_001079846.1:c.4435C>A	NP_001073315.1:p.His1479Asn
NM_004380.2:c.4549C>A	NP_004371.2:p.His1517Asn
XM_005255124.3:c.4504C>A	XP_005255181.1:p.His1502Asn
XM_005255125.3:c.4132C>A	XP_005255182.1:p.His1378Asn
XM_006720848.2:c.4288C>A	XP_006720911.1:p.His1430Asn
XM_011522380.1:c.4495C>A	XP_011520682.1:p.His1499Asn
XM_011522381.1:c.3796C>A	XP_011520683.1:p.His1266Asn
XM_005255124.4:c.4504C>A	XP_005255181.1:p.His1502Asn
XM_005255125.4:c.4132C>A	XP_005255182.1:p.His1378Asn
XM_006720848.3:c.4288C>A	XP_006720911.1:p.His1430Asn
XM_011522381.2:c.3796C>A	XP_011520683.1:p.His1266Asn
XM_017022944.1:c.4543C>A	XP_016878433.1:p.His1515Asn
NM_004380.3:c.4549C>A MANE Select	NP_004371.2:p.His1517Asn