Canonical Allele Identifier: CA394553772

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305083
• MyVariant Identifiers: chr16:g.3778785T>A (hg19) ; chr16:g.3728784T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728784T>A , CM000678.2:g.3728784T>A	GRCh38
NC_000016.9:g.3778785T>A , CM000678.1:g.3778785T>A	GRCh37
NC_000016.8:g.3718786T>A	NCBI36
NG_009873.1:g.156337A>T
NG_009873.2:g.156930A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6263A>T MANE Select	ENSP00000262367.5:p.Asn2088Ile
ENST00000262367.9:c.6263A>T	ENSP00000262367.5:p.Asn2088Ile
ENST00000382070.7:c.6149A>T	ENSP00000371502.3:p.Asn2050Ile
NM_001079846.1:c.6149A>T	NP_001073315.1:p.Asn2050Ile
NM_004380.2:c.6263A>T	NP_004371.2:p.Asn2088Ile
XM_005255124.3:c.6218A>T	XP_005255181.1:p.Asn2073Ile
XM_005255125.3:c.5846A>T	XP_005255182.1:p.Asn1949Ile
XM_006720848.2:c.6002A>T	XP_006720911.1:p.Asn2001Ile
XM_011522380.1:c.6209A>T	XP_011520682.1:p.Asn2070Ile
XM_011522381.1:c.5510A>T	XP_011520683.1:p.Asn1837Ile
XM_005255124.4:c.6218A>T	XP_005255181.1:p.Asn2073Ile
XM_005255125.4:c.5846A>T	XP_005255182.1:p.Asn1949Ile
XM_006720848.3:c.6002A>T	XP_006720911.1:p.Asn2001Ile
XM_011522381.2:c.5510A>T	XP_011520683.1:p.Asn1837Ile
XM_017022944.1:c.6257A>T	XP_016878433.1:p.Asn2086Ile
NM_004380.3:c.6263A>T MANE Select	NP_004371.2:p.Asn2088Ile