Canonical Allele Identifier: CA394551550

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3820858C>A (hg19) ; chr16:g.3770857C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770857C>A , CM000678.2:g.3770857C>A	GRCh38
NC_000016.9:g.3820858C>A , CM000678.1:g.3820858C>A	GRCh37
NC_000016.8:g.3760859C>A	NCBI36
NG_009873.1:g.114264G>T
NG_009873.2:g.114857G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2593G>T MANE Select	ENSP00000262367.5:p.Gly865Cys
ENST00000262367.9:c.2593G>T	ENSP00000262367.5:p.Gly865Cys
ENST00000382070.7:c.2479G>T	ENSP00000371502.3:p.Gly827Cys
ENST00000570939.2:c.1198G>T	ENSP00000461002.2:p.Gly400Cys
NM_001079846.1:c.2479G>T	NP_001073315.1:p.Gly827Cys
NM_004380.2:c.2593G>T	NP_004371.2:p.Gly865Cys
XM_005255124.3:c.2548G>T	XP_005255181.1:p.Gly850Cys
XM_005255125.3:c.2464-1504G>T	XP_005255182.1:n.2464-1504G>T
XM_006720848.2:c.2593G>T	XP_006720911.1:p.Gly865Cys
XM_011522380.1:c.2539G>T	XP_011520682.1:p.Gly847Cys
XM_011522381.1:c.1840G>T	XP_011520683.1:p.Gly614Cys
XM_011522382.1:c.2593G>T	XP_011520684.1:p.Gly865Cys
XM_005255124.4:c.2548G>T	XP_005255181.1:p.Gly850Cys
XM_005255125.4:c.2464-1504G>T	XP_005255182.1:n.2464-1504G>T
XM_006720848.3:c.2593G>T	XP_006720911.1:p.Gly865Cys
XM_011522381.2:c.1840G>T	XP_011520683.1:p.Gly614Cys
XM_011522382.3:c.2593G>T	XP_011520684.1:p.Gly865Cys
XM_017022944.1:c.2587G>T	XP_016878433.1:p.Gly863Cys
NM_004380.3:c.2593G>T MANE Select	NP_004371.2:p.Gly865Cys