Canonical Allele Identifier: CA394563939

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151329871
• MyVariant Identifiers: chr16:g.3786770C>G (hg19) ; chr16:g.3736769C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736769C>G , CM000678.2:g.3736769C>G	GRCh38
NC_000016.9:g.3786770C>G , CM000678.1:g.3786770C>G	GRCh37
NC_000016.8:g.3726771C>G	NCBI36
NG_009873.1:g.148352G>C
NG_009873.2:g.148945G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4441G>C MANE Select	ENSP00000262367.5:p.Asp1481His
ENST00000262367.9:c.4441G>C	ENSP00000262367.5:p.Asp1481His
ENST00000382070.7:c.4327G>C	ENSP00000371502.3:p.Asp1443His
ENST00000570939.2:c.3076G>C	ENSP00000461002.2:p.Asp1026His
ENST00000571763.5:n.231G>C
ENST00000574740.1:n.262G>C
ENST00000576720.1:n.3264G>C
NM_001079846.1:c.4327G>C	NP_001073315.1:p.Asp1443His
NM_004380.2:c.4441G>C	NP_004371.2:p.Asp1481His
XM_005255124.3:c.4396G>C	XP_005255181.1:p.Asp1466His
XM_005255125.3:c.4024G>C	XP_005255182.1:p.Asp1342His
XM_006720848.2:c.4180G>C	XP_006720911.1:p.Asp1394His
XM_011522380.1:c.4387G>C	XP_011520682.1:p.Asp1463His
XM_011522381.1:c.3688G>C	XP_011520683.1:p.Asp1230His
XM_005255124.4:c.4396G>C	XP_005255181.1:p.Asp1466His
XM_005255125.4:c.4024G>C	XP_005255182.1:p.Asp1342His
XM_006720848.3:c.4180G>C	XP_006720911.1:p.Asp1394His
XM_011522381.2:c.3688G>C	XP_011520683.1:p.Asp1230His
XM_017022944.1:c.4435G>C	XP_016878433.1:p.Asp1479His
NM_004380.3:c.4441G>C MANE Select	NP_004371.2:p.Asp1481His