Canonical Allele Identifier: CA394563880

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3736757-G-T
• MyVariant Identifiers: chr16:g.3786758G>T (hg19) ; chr16:g.3736757G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736757G>T , CM000678.2:g.3736757G>T	GRCh38
NC_000016.9:g.3786758G>T , CM000678.1:g.3786758G>T	GRCh37
NC_000016.8:g.3726759G>T	NCBI36
NG_009873.1:g.148364C>A
NG_009873.2:g.148957C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4453C>A MANE Select	ENSP00000262367.5:p.His1485Asn
ENST00000262367.9:c.4453C>A	ENSP00000262367.5:p.His1485Asn
ENST00000382070.7:c.4339C>A	ENSP00000371502.3:p.His1447Asn
ENST00000570939.2:c.3088C>A	ENSP00000461002.2:p.His1030Asn
ENST00000571763.5:n.243C>A
ENST00000574740.1:n.274C>A
ENST00000576720.1:n.3276C>A
NM_001079846.1:c.4339C>A	NP_001073315.1:p.His1447Asn
NM_004380.2:c.4453C>A	NP_004371.2:p.His1485Asn
XM_005255124.3:c.4408C>A	XP_005255181.1:p.His1470Asn
XM_005255125.3:c.4036C>A	XP_005255182.1:p.His1346Asn
XM_006720848.2:c.4192C>A	XP_006720911.1:p.His1398Asn
XM_011522380.1:c.4399C>A	XP_011520682.1:p.His1467Asn
XM_011522381.1:c.3700C>A	XP_011520683.1:p.His1234Asn
XM_005255124.4:c.4408C>A	XP_005255181.1:p.His1470Asn
XM_005255125.4:c.4036C>A	XP_005255182.1:p.His1346Asn
XM_006720848.3:c.4192C>A	XP_006720911.1:p.His1398Asn
XM_011522381.2:c.3700C>A	XP_011520683.1:p.His1234Asn
XM_017022944.1:c.4447C>A	XP_016878433.1:p.His1483Asn
NM_004380.3:c.4453C>A MANE Select	NP_004371.2:p.His1485Asn