Canonical Allele Identifier: CA394556050

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310023
• COSMIC: COSM4384867
• MyVariant Identifiers: chr16:g.3779503T>A (hg19) ; chr16:g.3729502T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729502T>A , CM000678.2:g.3729502T>A	GRCh38
NC_000016.9:g.3779503T>A , CM000678.1:g.3779503T>A	GRCh37
NC_000016.8:g.3719504T>A	NCBI36
NG_009873.1:g.155619A>T
NG_009873.2:g.156212A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5545A>T MANE Select	ENSP00000262367.5:p.Lys1849Ter
ENST00000262367.9:c.5545A>T	ENSP00000262367.5:p.Lys1849Ter
ENST00000382070.7:c.5431A>T	ENSP00000371502.3:p.Lys1811Ter
NM_001079846.1:c.5431A>T	NP_001073315.1:p.Lys1811Ter
NM_004380.2:c.5545A>T	NP_004371.2:p.Lys1849Ter
XM_005255124.3:c.5500A>T	XP_005255181.1:p.Lys1834Ter
XM_005255125.3:c.5128A>T	XP_005255182.1:p.Lys1710Ter
XM_006720848.2:c.5284A>T	XP_006720911.1:p.Lys1762Ter
XM_011522380.1:c.5491A>T	XP_011520682.1:p.Lys1831Ter
XM_011522381.1:c.4792A>T	XP_011520683.1:p.Lys1598Ter
XM_005255124.4:c.5500A>T	XP_005255181.1:p.Lys1834Ter
XM_005255125.4:c.5128A>T	XP_005255182.1:p.Lys1710Ter
XM_006720848.3:c.5284A>T	XP_006720911.1:p.Lys1762Ter
XM_011522381.2:c.4792A>T	XP_011520683.1:p.Lys1598Ter
XM_017022944.1:c.5539A>T	XP_016878433.1:p.Lys1847Ter
NM_004380.3:c.5545A>T MANE Select	NP_004371.2:p.Lys1849Ter