Canonical Allele Identifier: CA394551672

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3820891G>T (hg19) ; chr16:g.3770890G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770890G>T , CM000678.2:g.3770890G>T	GRCh38
NC_000016.9:g.3820891G>T , CM000678.1:g.3820891G>T	GRCh37
NC_000016.8:g.3760892G>T	NCBI36
NG_009873.1:g.114231C>A
NG_009873.2:g.114824C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2560C>A MANE Select	ENSP00000262367.5:p.His854Asn
ENST00000262367.9:c.2560C>A	ENSP00000262367.5:p.His854Asn
ENST00000382070.7:c.2446C>A	ENSP00000371502.3:p.His816Asn
ENST00000570939.2:c.1165C>A	ENSP00000461002.2:p.His389Asn
NM_001079846.1:c.2446C>A	NP_001073315.1:p.His816Asn
NM_004380.2:c.2560C>A	NP_004371.2:p.His854Asn
XM_005255124.3:c.2515C>A	XP_005255181.1:p.His839Asn
XM_005255125.3:c.2464-1537C>A	XP_005255182.1:n.2464-1537C>A
XM_006720848.2:c.2560C>A	XP_006720911.1:p.His854Asn
XM_011522380.1:c.2506C>A	XP_011520682.1:p.His836Asn
XM_011522381.1:c.1807C>A	XP_011520683.1:p.His603Asn
XM_011522382.1:c.2560C>A	XP_011520684.1:p.His854Asn
XM_005255124.4:c.2515C>A	XP_005255181.1:p.His839Asn
XM_005255125.4:c.2464-1537C>A	XP_005255182.1:n.2464-1537C>A
XM_006720848.3:c.2560C>A	XP_006720911.1:p.His854Asn
XM_011522381.2:c.1807C>A	XP_011520683.1:p.His603Asn
XM_011522382.3:c.2560C>A	XP_011520684.1:p.His854Asn
XM_017022944.1:c.2554C>A	XP_016878433.1:p.His852Asn
NM_004380.3:c.2560C>A MANE Select	NP_004371.2:p.His854Asn