Canonical Allele Identifier: CA394563299

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052069390
• gnomAD v4: 16-3736660-T-C
• MyVariant Identifiers: chr16:g.3786661T>C (hg19) ; chr16:g.3736660T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736660T>C , CM000678.2:g.3736660T>C	GRCh38
NC_000016.9:g.3786661T>C , CM000678.1:g.3786661T>C	GRCh37
NC_000016.8:g.3726662T>C	NCBI36
NG_009873.1:g.148461A>G
NG_009873.2:g.149054A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4550A>G MANE Select	ENSP00000262367.5:p.His1517Arg
ENST00000262367.9:c.4550A>G	ENSP00000262367.5:p.His1517Arg
ENST00000382070.7:c.4436A>G	ENSP00000371502.3:p.His1479Arg
ENST00000570939.2:c.3185A>G	ENSP00000461002.2:p.His1062Arg
ENST00000571763.5:n.340A>G
ENST00000574740.1:n.371A>G
ENST00000576720.1:n.3373A>G
NM_001079846.1:c.4436A>G	NP_001073315.1:p.His1479Arg
NM_004380.2:c.4550A>G	NP_004371.2:p.His1517Arg
XM_005255124.3:c.4505A>G	XP_005255181.1:p.His1502Arg
XM_005255125.3:c.4133A>G	XP_005255182.1:p.His1378Arg
XM_006720848.2:c.4289A>G	XP_006720911.1:p.His1430Arg
XM_011522380.1:c.4496A>G	XP_011520682.1:p.His1499Arg
XM_011522381.1:c.3797A>G	XP_011520683.1:p.His1266Arg
XM_005255124.4:c.4505A>G	XP_005255181.1:p.His1502Arg
XM_005255125.4:c.4133A>G	XP_005255182.1:p.His1378Arg
XM_006720848.3:c.4289A>G	XP_006720911.1:p.His1430Arg
XM_011522381.2:c.3797A>G	XP_011520683.1:p.His1266Arg
XM_017022944.1:c.4544A>G	XP_016878433.1:p.His1515Arg
NM_004380.3:c.4550A>G MANE Select	NP_004371.2:p.His1517Arg