Canonical Allele Identifier: CA7869415

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731822T>C , CM000678.2:g.3731822T>C	GRCh38
NC_000016.9:g.3781823T>C , CM000678.1:g.3781823T>C	GRCh37
NC_000016.8:g.3721824T>C	NCBI36
NG_009873.1:g.153299A>G
NG_009873.2:g.153892A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4844A>G MANE Select	NP_004371.2:p.Asn1615Ser
ENST00000262367.10:c.4844A>G MANE Select	ENSP00000262367.5:p.Asn1615Ser
NM_001079846.1:c.4730A>G	NP_001073315.1:p.Asn1577Ser
NM_004380.2:c.4844A>G	NP_004371.2:p.Asn1615Ser
ENST00000262367.9:c.4844A>G	ENSP00000262367.5:p.Asn1615Ser
ENST00000382070.7:c.4730A>G	ENSP00000371502.3:p.Asn1577Ser
XM_005255124.3:c.4799A>G	XP_005255181.1:p.Asn1600Ser
XM_005255124.4:c.4799A>G	XP_005255181.1:p.Asn1600Ser
XM_005255125.3:c.4427A>G	XP_005255182.1:p.Asn1476Ser
XM_005255125.4:c.4427A>G	XP_005255182.1:p.Asn1476Ser
XM_006720848.2:c.4583A>G	XP_006720911.1:p.Asn1528Ser
XM_006720848.3:c.4583A>G	XP_006720911.1:p.Asn1528Ser
XM_011522380.1:c.4790A>G	XP_011520682.1:p.Asn1597Ser
XM_011522381.1:c.4091A>G	XP_011520683.1:p.Asn1364Ser
XM_011522381.2:c.4091A>G	XP_011520683.1:p.Asn1364Ser
XM_017022944.1:c.4838A>G	XP_016878433.1:p.Asn1613Ser