Canonical Allele Identifier: CA7870060

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770815G>A , CM000678.2:g.3770815G>A	GRCh38
NC_000016.9:g.3820816G>A , CM000678.1:g.3820816G>A	GRCh37
NC_000016.8:g.3760817G>A	NCBI36
NG_009873.1:g.114306C>T
NG_009873.2:g.114899C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2635C>T MANE Select	NP_004371.2:p.Pro879Ser
ENST00000262367.10:c.2635C>T MANE Select	ENSP00000262367.5:p.Pro879Ser
NM_001079846.1:c.2521C>T	NP_001073315.1:p.Pro841Ser
NM_004380.2:c.2635C>T	NP_004371.2:p.Pro879Ser
ENST00000262367.9:c.2635C>T	ENSP00000262367.5:p.Pro879Ser
ENST00000382070.7:c.2521C>T	ENSP00000371502.3:p.Pro841Ser
ENST00000570939.2:c.1240C>T	ENSP00000461002.2:p.Pro414Ser
XM_005255124.3:c.2590C>T	XP_005255181.1:p.Pro864Ser
XM_005255124.4:c.2590C>T	XP_005255181.1:p.Pro864Ser
XM_005255125.3:c.2464-1462C>T	XP_005255182.1:n.2464-1462C>T
XM_005255125.4:c.2464-1462C>T	XP_005255182.1:n.2464-1462C>T
XM_006720848.2:c.2635C>T	XP_006720911.1:p.Pro879Ser
XM_006720848.3:c.2635C>T	XP_006720911.1:p.Pro879Ser
XM_011522380.1:c.2581C>T	XP_011520682.1:p.Pro861Ser
XM_011522381.1:c.1882C>T	XP_011520683.1:p.Pro628Ser
XM_011522381.2:c.1882C>T	XP_011520683.1:p.Pro628Ser
XM_011522382.1:c.2635C>T	XP_011520684.1:p.Pro879Ser
XM_011522382.3:c.2635C>T	XP_011520684.1:p.Pro879Ser
XM_017022944.1:c.2629C>T	XP_016878433.1:p.Pro877Ser