Canonical Allele Identifier: CA394568544

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2646136
• ClinVar RCV Id: RCV003411252
• dbSNP Id: rs2052622140
• gnomAD v3: 16-3757814-G-A
• gnomAD v4: 16-3757814-G-A
• MyVariant Identifiers: chr16:g.3807815G>A (hg19) ; chr16:g.3757814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757814G>A , CM000678.2:g.3757814G>A	GRCh38
NC_000016.9:g.3807815G>A , CM000678.1:g.3807815G>A	GRCh37
NC_000016.8:g.3747816G>A	NCBI36
NG_009873.1:g.127307C>T
NG_009873.2:g.127900C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3604C>T MANE Select	ENSP00000262367.5:p.Arg1202Cys
ENST00000262367.9:c.3604C>T	ENSP00000262367.5:p.Arg1202Cys
ENST00000382070.7:c.3490C>T	ENSP00000371502.3:p.Arg1164Cys
ENST00000570939.2:c.2209C>T	ENSP00000461002.2:p.Arg737Cys
NM_001079846.1:c.3490C>T	NP_001073315.1:p.Arg1164Cys
NM_004380.2:c.3604C>T	NP_004371.2:p.Arg1202Cys
XM_005255124.3:c.3559C>T	XP_005255181.1:p.Arg1187Cys
XM_005255125.3:c.3187C>T	XP_005255182.1:p.Arg1063Cys
XM_006720848.2:c.3604C>T	XP_006720911.1:p.Arg1202Cys
XM_011522380.1:c.3550C>T	XP_011520682.1:p.Arg1184Cys
XM_011522381.1:c.2851C>T	XP_011520683.1:p.Arg951Cys
XM_011522382.1:c.3604C>T	XP_011520684.1:p.Arg1202Cys
XM_005255124.4:c.3559C>T	XP_005255181.1:p.Arg1187Cys
XM_005255125.4:c.3187C>T	XP_005255182.1:p.Arg1063Cys
XM_006720848.3:c.3604C>T	XP_006720911.1:p.Arg1202Cys
XM_011522381.2:c.2851C>T	XP_011520683.1:p.Arg951Cys
XM_011522382.3:c.3604C>T	XP_011520684.1:p.Arg1202Cys
XM_017022944.1:c.3598C>T	XP_016878433.1:p.Arg1200Cys
NM_004380.3:c.3604C>T MANE Select	NP_004371.2:p.Arg1202Cys