Canonical Allele Identifier: CA394556045

Gene: CREBBP

Linked Data

• dbSNP Id: rs1473206711
• MyVariant Identifiers: chr16:g.3779501C>A (hg19) ; chr16:g.3729500C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729500C>A , CM000678.2:g.3729500C>A	GRCh38
NC_000016.9:g.3779501C>A , CM000678.1:g.3779501C>A	GRCh37
NC_000016.8:g.3719502C>A	NCBI36
NG_009873.1:g.155621G>T
NG_009873.2:g.156214G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5547G>T MANE Select	ENSP00000262367.5:p.Lys1849Asn
ENST00000262367.9:c.5547G>T	ENSP00000262367.5:p.Lys1849Asn
ENST00000382070.7:c.5433G>T	ENSP00000371502.3:p.Lys1811Asn
NM_001079846.1:c.5433G>T	NP_001073315.1:p.Lys1811Asn
NM_004380.2:c.5547G>T	NP_004371.2:p.Lys1849Asn
XM_005255124.3:c.5502G>T	XP_005255181.1:p.Lys1834Asn
XM_005255125.3:c.5130G>T	XP_005255182.1:p.Lys1710Asn
XM_006720848.2:c.5286G>T	XP_006720911.1:p.Lys1762Asn
XM_011522380.1:c.5493G>T	XP_011520682.1:p.Lys1831Asn
XM_011522381.1:c.4794G>T	XP_011520683.1:p.Lys1598Asn
XM_005255124.4:c.5502G>T	XP_005255181.1:p.Lys1834Asn
XM_005255125.4:c.5130G>T	XP_005255182.1:p.Lys1710Asn
XM_006720848.3:c.5286G>T	XP_006720911.1:p.Lys1762Asn
XM_011522381.2:c.4794G>T	XP_011520683.1:p.Lys1598Asn
XM_017022944.1:c.5541G>T	XP_016878433.1:p.Lys1847Asn
NM_004380.3:c.5547G>T MANE Select	NP_004371.2:p.Lys1849Asn