Canonical Allele Identifier: CA394570543

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767770C>T , CM000678.2:g.3767770C>T	GRCh38
NC_000016.9:g.3817771C>T , CM000678.1:g.3817771C>T	GRCh37
NC_000016.8:g.3757772C>T	NCBI36
NG_009873.1:g.117351G>A
NG_009873.2:g.117944G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3200G>A MANE Select	NP_004371.2:p.Ser1067Asn
ENST00000262367.10:c.3200G>A MANE Select	ENSP00000262367.5:p.Ser1067Asn
NM_001079846.1:c.3086G>A	NP_001073315.1:p.Ser1029Asn
NM_004380.2:c.3200G>A	NP_004371.2:p.Ser1067Asn
ENST00000262367.9:c.3200G>A	ENSP00000262367.5:p.Ser1067Asn
ENST00000382070.7:c.3086G>A	ENSP00000371502.3:p.Ser1029Asn
ENST00000570939.2:c.1805G>A	ENSP00000461002.2:p.Ser602Asn
ENST00000573672.1:n.454G>A
XM_005255124.3:c.3155G>A	XP_005255181.1:p.Ser1052Asn
XM_005255124.4:c.3155G>A	XP_005255181.1:p.Ser1052Asn
XM_005255125.3:c.2783G>A	XP_005255182.1:p.Ser928Asn
XM_005255125.4:c.2783G>A	XP_005255182.1:p.Ser928Asn
XM_006720848.2:c.3200G>A	XP_006720911.1:p.Ser1067Asn
XM_006720848.3:c.3200G>A	XP_006720911.1:p.Ser1067Asn
XM_011522380.1:c.3146G>A	XP_011520682.1:p.Ser1049Asn
XM_011522381.1:c.2447G>A	XP_011520683.1:p.Ser816Asn
XM_011522381.2:c.2447G>A	XP_011520683.1:p.Ser816Asn
XM_011522382.1:c.3200G>A	XP_011520684.1:p.Ser1067Asn
XM_011522382.3:c.3200G>A	XP_011520684.1:p.Ser1067Asn
XM_017022944.1:c.3194G>A	XP_016878433.1:p.Ser1065Asn