Canonical Allele Identifier: CA394557046

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311380
• MyVariant Identifiers: chr16:g.3779683T>C (hg19) ; chr16:g.3729682T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729682T>C , CM000678.2:g.3729682T>C	GRCh38
NC_000016.9:g.3779683T>C , CM000678.1:g.3779683T>C	GRCh37
NC_000016.8:g.3719684T>C	NCBI36
NG_009873.1:g.155439A>G
NG_009873.2:g.156032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5365A>G MANE Select	ENSP00000262367.5:p.Asn1789Asp
ENST00000262367.9:c.5365A>G	ENSP00000262367.5:p.Asn1789Asp
ENST00000382070.7:c.5251A>G	ENSP00000371502.3:p.Asn1751Asp
NM_001079846.1:c.5251A>G	NP_001073315.1:p.Asn1751Asp
NM_004380.2:c.5365A>G	NP_004371.2:p.Asn1789Asp
XM_005255124.3:c.5320A>G	XP_005255181.1:p.Asn1774Asp
XM_005255125.3:c.4948A>G	XP_005255182.1:p.Asn1650Asp
XM_006720848.2:c.5104A>G	XP_006720911.1:p.Asn1702Asp
XM_011522380.1:c.5311A>G	XP_011520682.1:p.Asn1771Asp
XM_011522381.1:c.4612A>G	XP_011520683.1:p.Asn1538Asp
XM_005255124.4:c.5320A>G	XP_005255181.1:p.Asn1774Asp
XM_005255125.4:c.4948A>G	XP_005255182.1:p.Asn1650Asp
XM_006720848.3:c.5104A>G	XP_006720911.1:p.Asn1702Asp
XM_011522381.2:c.4612A>G	XP_011520683.1:p.Asn1538Asp
XM_017022944.1:c.5359A>G	XP_016878433.1:p.Asn1787Asp
NM_004380.3:c.5365A>G MANE Select	NP_004371.2:p.Asn1789Asp