Canonical Allele Identifier: CA158193

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728523T>C , CM000678.2:g.3728523T>C	GRCh38
NC_000016.9:g.3778524T>C , CM000678.1:g.3778524T>C	GRCh37
NC_000016.8:g.3718525T>C	NCBI36
NG_009873.1:g.156598A>G
NG_009873.2:g.157191A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6524A>G MANE Select	NP_004371.2:p.Asn2175Ser
ENST00000262367.10:c.6524A>G MANE Select	ENSP00000262367.5:p.Asn2175Ser
NM_001079846.1:c.6410A>G	NP_001073315.1:p.Asn2137Ser
NM_004380.2:c.6524A>G	NP_004371.2:p.Asn2175Ser
ENST00000262367.9:c.6524A>G	ENSP00000262367.5:p.Asn2175Ser
ENST00000382070.7:c.6410A>G	ENSP00000371502.3:p.Asn2137Ser
XM_005255124.3:c.6479A>G	XP_005255181.1:p.Asn2160Ser
XM_005255124.4:c.6479A>G	XP_005255181.1:p.Asn2160Ser
XM_005255125.3:c.6107A>G	XP_005255182.1:p.Asn2036Ser
XM_005255125.4:c.6107A>G	XP_005255182.1:p.Asn2036Ser
XM_006720848.2:c.6263A>G	XP_006720911.1:p.Asn2088Ser
XM_006720848.3:c.6263A>G	XP_006720911.1:p.Asn2088Ser
XM_011522380.1:c.6470A>G	XP_011520682.1:p.Asn2157Ser
XM_011522381.1:c.5771A>G	XP_011520683.1:p.Asn1924Ser
XM_011522381.2:c.5771A>G	XP_011520683.1:p.Asn1924Ser
XM_017022944.1:c.6518A>G	XP_016878433.1:p.Asn2173Ser