Canonical Allele Identifier: CA394556159

Gene: CREBBP

Linked Data

• dbSNP Id: rs1327619860
• MyVariant Identifiers: chr16:g.3779541T>A (hg19) ; chr16:g.3729540T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729540T>A , CM000678.2:g.3729540T>A	GRCh38
NC_000016.9:g.3779541T>A , CM000678.1:g.3779541T>A	GRCh37
NC_000016.8:g.3719542T>A	NCBI36
NG_009873.1:g.155581A>T
NG_009873.2:g.156174A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5507A>T MANE Select	ENSP00000262367.5:p.Asn1836Ile
ENST00000262367.9:c.5507A>T	ENSP00000262367.5:p.Asn1836Ile
ENST00000382070.7:c.5393A>T	ENSP00000371502.3:p.Asn1798Ile
NM_001079846.1:c.5393A>T	NP_001073315.1:p.Asn1798Ile
NM_004380.2:c.5507A>T	NP_004371.2:p.Asn1836Ile
XM_005255124.3:c.5462A>T	XP_005255181.1:p.Asn1821Ile
XM_005255125.3:c.5090A>T	XP_005255182.1:p.Asn1697Ile
XM_006720848.2:c.5246A>T	XP_006720911.1:p.Asn1749Ile
XM_011522380.1:c.5453A>T	XP_011520682.1:p.Asn1818Ile
XM_011522381.1:c.4754A>T	XP_011520683.1:p.Asn1585Ile
XM_005255124.4:c.5462A>T	XP_005255181.1:p.Asn1821Ile
XM_005255125.4:c.5090A>T	XP_005255182.1:p.Asn1697Ile
XM_006720848.3:c.5246A>T	XP_006720911.1:p.Asn1749Ile
XM_011522381.2:c.4754A>T	XP_011520683.1:p.Asn1585Ile
XM_017022944.1:c.5501A>T	XP_016878433.1:p.Asn1834Ile
NM_004380.3:c.5507A>T MANE Select	NP_004371.2:p.Asn1836Ile