Canonical Allele Identifier: CA394556354

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310725
• COSMIC: COSM5576011
• MyVariant Identifiers: chr16:g.3779601C>A (hg19) ; chr16:g.3729600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729600C>A , CM000678.2:g.3729600C>A	GRCh38
NC_000016.9:g.3779601C>A , CM000678.1:g.3779601C>A	GRCh37
NC_000016.8:g.3719602C>A	NCBI36
NG_009873.1:g.155521G>T
NG_009873.2:g.156114G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5447G>T MANE Select	ENSP00000262367.5:p.Cys1816Phe
ENST00000262367.9:c.5447G>T	ENSP00000262367.5:p.Cys1816Phe
ENST00000382070.7:c.5333G>T	ENSP00000371502.3:p.Cys1778Phe
NM_001079846.1:c.5333G>T	NP_001073315.1:p.Cys1778Phe
NM_004380.2:c.5447G>T	NP_004371.2:p.Cys1816Phe
XM_005255124.3:c.5402G>T	XP_005255181.1:p.Cys1801Phe
XM_005255125.3:c.5030G>T	XP_005255182.1:p.Cys1677Phe
XM_006720848.2:c.5186G>T	XP_006720911.1:p.Cys1729Phe
XM_011522380.1:c.5393G>T	XP_011520682.1:p.Cys1798Phe
XM_011522381.1:c.4694G>T	XP_011520683.1:p.Cys1565Phe
XM_005255124.4:c.5402G>T	XP_005255181.1:p.Cys1801Phe
XM_005255125.4:c.5030G>T	XP_005255182.1:p.Cys1677Phe
XM_006720848.3:c.5186G>T	XP_006720911.1:p.Cys1729Phe
XM_011522381.2:c.4694G>T	XP_011520683.1:p.Cys1565Phe
XM_017022944.1:c.5441G>T	XP_016878433.1:p.Cys1814Phe
NM_004380.3:c.5447G>T MANE Select	NP_004371.2:p.Cys1816Phe