Canonical Allele Identifier: CA394553739

Gene: CREBBP

Linked Data

• dbSNP Id: rs78629035
• MyVariant Identifiers: chr16:g.3778770T>A (hg19) ; chr16:g.3728769T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728769T>A , CM000678.2:g.3728769T>A	GRCh38
NC_000016.9:g.3778770T>A , CM000678.1:g.3778770T>A	GRCh37
NC_000016.8:g.3718771T>A	NCBI36
NG_009873.1:g.156352A>T
NG_009873.2:g.156945A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6278A>T MANE Select	ENSP00000262367.5:p.Asn2093Ile
ENST00000262367.9:c.6278A>T	ENSP00000262367.5:p.Asn2093Ile
ENST00000382070.7:c.6164A>T	ENSP00000371502.3:p.Asn2055Ile
NM_001079846.1:c.6164A>T	NP_001073315.1:p.Asn2055Ile
NM_004380.2:c.6278A>T	NP_004371.2:p.Asn2093Ile
XM_005255124.3:c.6233A>T	XP_005255181.1:p.Asn2078Ile
XM_005255125.3:c.5861A>T	XP_005255182.1:p.Asn1954Ile
XM_006720848.2:c.6017A>T	XP_006720911.1:p.Asn2006Ile
XM_011522380.1:c.6224A>T	XP_011520682.1:p.Asn2075Ile
XM_011522381.1:c.5525A>T	XP_011520683.1:p.Asn1842Ile
XM_005255124.4:c.6233A>T	XP_005255181.1:p.Asn2078Ile
XM_005255125.4:c.5861A>T	XP_005255182.1:p.Asn1954Ile
XM_006720848.3:c.6017A>T	XP_006720911.1:p.Asn2006Ile
XM_011522381.2:c.5525A>T	XP_011520683.1:p.Asn1842Ile
XM_017022944.1:c.6272A>T	XP_016878433.1:p.Asn2091Ile
NM_004380.3:c.6278A>T MANE Select	NP_004371.2:p.Asn2093Ile