Canonical Allele Identifier: CA394563307

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329147
• MyVariant Identifiers: chr16:g.3786662G>A (hg19) ; chr16:g.3736661G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4549C>T MANE Select	ENSP00000262367.5:p.His1517Tyr
ENST00000262367.9:c.4549C>T	ENSP00000262367.5:p.His1517Tyr
ENST00000382070.7:c.4435C>T	ENSP00000371502.3:p.His1479Tyr
ENST00000570939.2:c.3184C>T	ENSP00000461002.2:p.His1062Tyr
ENST00000571763.5:n.339C>T
ENST00000574740.1:n.370C>T
ENST00000576720.1:n.3372C>T
NM_001079846.1:c.4435C>T	NP_001073315.1:p.His1479Tyr
NM_004380.2:c.4549C>T	NP_004371.2:p.His1517Tyr
XM_005255124.3:c.4504C>T	XP_005255181.1:p.His1502Tyr
XM_005255125.3:c.4132C>T	XP_005255182.1:p.His1378Tyr
XM_006720848.2:c.4288C>T	XP_006720911.1:p.His1430Tyr
XM_011522380.1:c.4495C>T	XP_011520682.1:p.His1499Tyr
XM_011522381.1:c.3796C>T	XP_011520683.1:p.His1266Tyr
XM_005255124.4:c.4504C>T	XP_005255181.1:p.His1502Tyr
XM_005255125.4:c.4132C>T	XP_005255182.1:p.His1378Tyr
XM_006720848.3:c.4288C>T	XP_006720911.1:p.His1430Tyr
XM_011522381.2:c.3796C>T	XP_011520683.1:p.His1266Tyr
XM_017022944.1:c.4543C>T	XP_016878433.1:p.His1515Tyr
NM_004380.3:c.4549C>T MANE Select	NP_004371.2:p.His1517Tyr