Canonical Allele Identifier: CA7869313

Gene: CREBBP

Linked Data

• dbSNP Id: rs751537328
• ExAC: 16:3779856 T / G
• MyVariant Identifiers: chr16:g.3779856T>G (hg19) ; chr16:g.3729855T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729855T>G , CM000678.2:g.3729855T>G	GRCh38
NC_000016.9:g.3779856T>G , CM000678.1:g.3779856T>G	GRCh37
NC_000016.8:g.3719857T>G	NCBI36
NG_009873.1:g.155266A>C
NG_009873.2:g.155859A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5192A>C MANE Select	ENSP00000262367.5:p.Asn1731Thr
ENST00000262367.9:c.5192A>C	ENSP00000262367.5:p.Asn1731Thr
ENST00000382070.7:c.5078A>C	ENSP00000371502.3:p.Asn1693Thr
NM_001079846.1:c.5078A>C	NP_001073315.1:p.Asn1693Thr
NM_004380.2:c.5192A>C	NP_004371.2:p.Asn1731Thr
XM_005255124.3:c.5147A>C	XP_005255181.1:p.Asn1716Thr
XM_005255125.3:c.4775A>C	XP_005255182.1:p.Asn1592Thr
XM_006720848.2:c.4931A>C	XP_006720911.1:p.Asn1644Thr
XM_011522380.1:c.5138A>C	XP_011520682.1:p.Asn1713Thr
XM_011522381.1:c.4439A>C	XP_011520683.1:p.Asn1480Thr
XM_005255124.4:c.5147A>C	XP_005255181.1:p.Asn1716Thr
XM_005255125.4:c.4775A>C	XP_005255182.1:p.Asn1592Thr
XM_006720848.3:c.4931A>C	XP_006720911.1:p.Asn1644Thr
XM_011522381.2:c.4439A>C	XP_011520683.1:p.Asn1480Thr
XM_017022944.1:c.5186A>C	XP_016878433.1:p.Asn1729Thr
NM_004380.3:c.5192A>C MANE Select	NP_004371.2:p.Asn1731Thr