Canonical Allele Identifier: CA7869084

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728505T>C , CM000678.2:g.3728505T>C	GRCh38
NC_000016.9:g.3778506T>C , CM000678.1:g.3778506T>C	GRCh37
NC_000016.8:g.3718507T>C	NCBI36
NG_009873.1:g.156616A>G
NG_009873.2:g.157209A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6542A>G MANE Select	NP_004371.2:p.Asn2181Ser
ENST00000262367.10:c.6542A>G MANE Select	ENSP00000262367.5:p.Asn2181Ser
NM_001079846.1:c.6428A>G	NP_001073315.1:p.Asn2143Ser
NM_004380.2:c.6542A>G	NP_004371.2:p.Asn2181Ser
ENST00000262367.9:c.6542A>G	ENSP00000262367.5:p.Asn2181Ser
ENST00000382070.7:c.6428A>G	ENSP00000371502.3:p.Asn2143Ser
XM_005255124.3:c.6497A>G	XP_005255181.1:p.Asn2166Ser
XM_005255124.4:c.6497A>G	XP_005255181.1:p.Asn2166Ser
XM_005255125.3:c.6125A>G	XP_005255182.1:p.Asn2042Ser
XM_005255125.4:c.6125A>G	XP_005255182.1:p.Asn2042Ser
XM_006720848.2:c.6281A>G	XP_006720911.1:p.Asn2094Ser
XM_006720848.3:c.6281A>G	XP_006720911.1:p.Asn2094Ser
XM_011522380.1:c.6488A>G	XP_011520682.1:p.Asn2163Ser
XM_011522381.1:c.5789A>G	XP_011520683.1:p.Asn1930Ser
XM_011522381.2:c.5789A>G	XP_011520683.1:p.Asn1930Ser
XM_017022944.1:c.6536A>G	XP_016878433.1:p.Asn2179Ser