Canonical Allele Identifier: CA394554547

Gene: CREBBP

Linked Data

• dbSNP Id: rs1458002393
• gnomAD v3: 16-3778091-A-T
• gnomAD v4: 16-3778091-A-T
• MyVariant Identifiers: chr16:g.3828092A>T (hg19) ; chr16:g.3778091A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778091A>T , CM000678.2:g.3778091A>T	GRCh38
NC_000016.9:g.3828092A>T , CM000678.1:g.3828092A>T	GRCh37
NC_000016.8:g.3768093A>T	NCBI36
NG_009873.1:g.107030T>A
NG_009873.2:g.107623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2033T>A MANE Select	ENSP00000262367.5:p.Ile678Asn
ENST00000262367.9:c.2033T>A	ENSP00000262367.5:p.Ile678Asn
ENST00000382070.7:c.1919T>A	ENSP00000371502.3:p.Ile640Asn
ENST00000570939.2:c.638T>A	ENSP00000461002.2:p.Ile213Asn
ENST00000571826.5:c.82T>A
ENST00000572134.1:c.346T>A
ENST00000634839.1:n.195T>A
NM_001079846.1:c.1919T>A	NP_001073315.1:p.Ile640Asn
NM_004380.2:c.2033T>A	NP_004371.2:p.Ile678Asn
XM_005255124.3:c.2033T>A	XP_005255181.1:p.Ile678Asn
XM_005255125.3:c.2033T>A	XP_005255182.1:p.Ile678Asn
XM_006720848.2:c.2033T>A	XP_006720911.1:p.Ile678Asn
XM_011522380.1:c.1979T>A	XP_011520682.1:p.Ile660Asn
XM_011522381.1:c.1280T>A	XP_011520683.1:p.Ile427Asn
XM_011522382.1:c.2033T>A	XP_011520684.1:p.Ile678Asn
XM_005255124.4:c.2033T>A	XP_005255181.1:p.Ile678Asn
XM_005255125.4:c.2033T>A	XP_005255182.1:p.Ile678Asn
XM_006720848.3:c.2033T>A	XP_006720911.1:p.Ile678Asn
XM_011522381.2:c.1280T>A	XP_011520683.1:p.Ile427Asn
XM_011522382.3:c.2033T>A	XP_011520684.1:p.Ile678Asn
XM_017022944.1:c.2033T>A	XP_016878433.1:p.Ile678Asn
NM_004380.3:c.2033T>A MANE Select	NP_004371.2:p.Ile678Asn