Canonical Allele Identifier: CA394554349

Gene: CREBBP

Linked Data

• dbSNP Id: rs2141232894
• MyVariant Identifiers: chr16:g.3828041A>T (hg19) ; chr16:g.3778040A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778040A>T , CM000678.2:g.3778040A>T	GRCh38
NC_000016.9:g.3828041A>T , CM000678.1:g.3828041A>T	GRCh37
NC_000016.8:g.3768042A>T	NCBI36
NG_009873.1:g.107081T>A
NG_009873.2:g.107674T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2084T>A MANE Select	ENSP00000262367.5:p.Ile695Asn
ENST00000262367.9:c.2084T>A	ENSP00000262367.5:p.Ile695Asn
ENST00000382070.7:c.1970T>A	ENSP00000371502.3:p.Ile657Asn
ENST00000570939.2:c.689T>A	ENSP00000461002.2:p.Ile230Asn
ENST00000571826.5:c.133T>A
ENST00000572134.1:c.397T>A
ENST00000634839.1:n.246T>A
NM_001079846.1:c.1970T>A	NP_001073315.1:p.Ile657Asn
NM_004380.2:c.2084T>A	NP_004371.2:p.Ile695Asn
XM_005255124.3:c.2084T>A	XP_005255181.1:p.Ile695Asn
XM_005255125.3:c.2084T>A	XP_005255182.1:p.Ile695Asn
XM_006720848.2:c.2084T>A	XP_006720911.1:p.Ile695Asn
XM_011522380.1:c.2030T>A	XP_011520682.1:p.Ile677Asn
XM_011522381.1:c.1331T>A	XP_011520683.1:p.Ile444Asn
XM_011522382.1:c.2084T>A	XP_011520684.1:p.Ile695Asn
XM_005255124.4:c.2084T>A	XP_005255181.1:p.Ile695Asn
XM_005255125.4:c.2084T>A	XP_005255182.1:p.Ile695Asn
XM_006720848.3:c.2084T>A	XP_006720911.1:p.Ile695Asn
XM_011522381.2:c.1331T>A	XP_011520683.1:p.Ile444Asn
XM_011522382.3:c.2084T>A	XP_011520684.1:p.Ile695Asn
XM_017022944.1:c.2084T>A	XP_016878433.1:p.Ile695Asn
NM_004380.3:c.2084T>A MANE Select	NP_004371.2:p.Ile695Asn