Canonical Allele Identifier: CA7869658

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3744947T>C , CM000678.2:g.3744947T>C	GRCh38
NC_000016.9:g.3794948T>C , CM000678.1:g.3794948T>C	GRCh37
NC_000016.8:g.3734949T>C	NCBI36
NG_009873.1:g.140174A>G
NG_009873.2:g.140767A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3929A>G MANE Select	NP_004371.2:p.Asn1310Ser
ENST00000262367.10:c.3929A>G MANE Select	ENSP00000262367.5:p.Asn1310Ser
NM_001079846.1:c.3815A>G	NP_001073315.1:p.Asn1272Ser
NM_004380.2:c.3929A>G	NP_004371.2:p.Asn1310Ser
ENST00000262367.9:c.3929A>G	ENSP00000262367.5:p.Asn1310Ser
ENST00000382070.7:c.3815A>G	ENSP00000371502.3:p.Asn1272Ser
ENST00000570939.2:c.2564A>G	ENSP00000461002.2:p.Asn855Ser
ENST00000572569.1:n.393A>G
ENST00000573517.6:c.235A>G
ENST00000574740.1:n.11A>G
XM_005255124.3:c.3884A>G	XP_005255181.1:p.Asn1295Ser
XM_005255124.4:c.3884A>G	XP_005255181.1:p.Asn1295Ser
XM_005255125.3:c.3512A>G	XP_005255182.1:p.Asn1171Ser
XM_005255125.4:c.3512A>G	XP_005255182.1:p.Asn1171Ser
XM_006720848.2:c.3929A>G	XP_006720911.1:p.Asn1310Ser
XM_006720848.3:c.3929A>G	XP_006720911.1:p.Asn1310Ser
XM_011522380.1:c.3875A>G	XP_011520682.1:p.Asn1292Ser
XM_011522381.1:c.3176A>G	XP_011520683.1:p.Asn1059Ser
XM_011522381.2:c.3176A>G	XP_011520683.1:p.Asn1059Ser
XM_017022944.1:c.3923A>G	XP_016878433.1:p.Asn1308Ser