Canonical Allele Identifier: CA394549853

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3769313G>T , CM000678.2:g.3769313G>T	GRCh38
NC_000016.9:g.3819314G>T , CM000678.1:g.3819314G>T	GRCh37
NC_000016.8:g.3759315G>T	NCBI36
NG_009873.1:g.115808C>A
NG_009873.2:g.116401C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2921C>A MANE Select	NP_004371.2:p.Thr974Asn
ENST00000262367.10:c.2921C>A MANE Select	ENSP00000262367.5:p.Thr974Asn
NM_001079846.1:c.2807C>A	NP_001073315.1:p.Thr936Asn
NM_004380.2:c.2921C>A	NP_004371.2:p.Thr974Asn
ENST00000262367.9:c.2921C>A	ENSP00000262367.5:p.Thr974Asn
ENST00000382070.7:c.2807C>A	ENSP00000371502.3:p.Thr936Asn
ENST00000570939.2:c.1526C>A	ENSP00000461002.2:p.Thr509Asn
ENST00000573672.1:n.175C>A
XM_005255124.3:c.2876C>A	XP_005255181.1:p.Thr959Asn
XM_005255124.4:c.2876C>A	XP_005255181.1:p.Thr959Asn
XM_005255125.3:c.2504C>A	XP_005255182.1:p.Thr835Asn
XM_005255125.4:c.2504C>A	XP_005255182.1:p.Thr835Asn
XM_006720848.2:c.2921C>A	XP_006720911.1:p.Thr974Asn
XM_006720848.3:c.2921C>A	XP_006720911.1:p.Thr974Asn
XM_011522380.1:c.2867C>A	XP_011520682.1:p.Thr956Asn
XM_011522381.1:c.2168C>A	XP_011520683.1:p.Thr723Asn
XM_011522381.2:c.2168C>A	XP_011520683.1:p.Thr723Asn
XM_011522382.1:c.2921C>A	XP_011520684.1:p.Thr974Asn
XM_011522382.3:c.2921C>A	XP_011520684.1:p.Thr974Asn
XM_017022944.1:c.2915C>A	XP_016878433.1:p.Thr972Asn