Canonical Allele Identifier: CA394565314

Gene: CREBBP

Linked Data

• dbSNP Id: rs587783490
• MyVariant Identifiers: chr16:g.3790455G>C (hg19) ; chr16:g.3740454G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740454G>C , CM000678.2:g.3740454G>C	GRCh38
NC_000016.9:g.3790455G>C , CM000678.1:g.3790455G>C	GRCh37
NC_000016.8:g.3730456G>C	NCBI36
NG_009873.1:g.144667C>G
NG_009873.2:g.145260C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4078C>G MANE Select	ENSP00000262367.5:p.Arg1360Gly
ENST00000262367.9:c.4078C>G	ENSP00000262367.5:p.Arg1360Gly
ENST00000382070.7:c.3964C>G	ENSP00000371502.3:p.Arg1322Gly
ENST00000570939.2:c.2713C>G	ENSP00000461002.2:p.Arg905Gly
ENST00000572569.1:n.542C>G
ENST00000573517.6:c.384C>G
ENST00000574740.1:n.160C>G
ENST00000576720.1:n.3015C>G
NM_001079846.1:c.3964C>G	NP_001073315.1:p.Arg1322Gly
NM_004380.2:c.4078C>G	NP_004371.2:p.Arg1360Gly
XM_005255124.3:c.4033C>G	XP_005255181.1:p.Arg1345Gly
XM_005255125.3:c.3661C>G	XP_005255182.1:p.Arg1221Gly
XM_006720848.2:c.4078C>G	XP_006720911.1:p.Arg1360Gly
XM_011522380.1:c.4024C>G	XP_011520682.1:p.Arg1342Gly
XM_011522381.1:c.3325C>G	XP_011520683.1:p.Arg1109Gly
XM_005255124.4:c.4033C>G	XP_005255181.1:p.Arg1345Gly
XM_005255125.4:c.3661C>G	XP_005255182.1:p.Arg1221Gly
XM_006720848.3:c.4078C>G	XP_006720911.1:p.Arg1360Gly
XM_011522381.2:c.3325C>G	XP_011520683.1:p.Arg1109Gly
XM_017022944.1:c.4072C>G	XP_016878433.1:p.Arg1358Gly
NM_004380.3:c.4078C>G MANE Select	NP_004371.2:p.Arg1360Gly