Canonical Allele Identifier: CA394562360

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736104T>A , CM000678.2:g.3736104T>A	GRCh38
NC_000016.9:g.3786105T>A , CM000678.1:g.3786105T>A	GRCh37
NC_000016.8:g.3726106T>A	NCBI36
NG_009873.1:g.149017A>T
NG_009873.2:g.149610A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4660A>T MANE Select	NP_004371.2:p.Lys1554Ter
ENST00000262367.10:c.4660A>T MANE Select	ENSP00000262367.5:p.Lys1554Ter
NM_001079846.1:c.4546A>T	NP_001073315.1:p.Lys1516Ter
NM_004380.2:c.4660A>T	NP_004371.2:p.Lys1554Ter
ENST00000262367.9:c.4660A>T	ENSP00000262367.5:p.Lys1554Ter
ENST00000382070.7:c.4546A>T	ENSP00000371502.3:p.Lys1516Ter
ENST00000570939.2:c.3295A>T	ENSP00000461002.2:p.Lys1099Ter
ENST00000571763.5:n.450A>T
ENST00000576720.1:n.3483A>T
XM_005255124.3:c.4615A>T	XP_005255181.1:p.Lys1539Ter
XM_005255124.4:c.4615A>T	XP_005255181.1:p.Lys1539Ter
XM_005255125.3:c.4243A>T	XP_005255182.1:p.Lys1415Ter
XM_005255125.4:c.4243A>T	XP_005255182.1:p.Lys1415Ter
XM_006720848.2:c.4399A>T	XP_006720911.1:p.Lys1467Ter
XM_006720848.3:c.4399A>T	XP_006720911.1:p.Lys1467Ter
XM_011522380.1:c.4606A>T	XP_011520682.1:p.Lys1536Ter
XM_011522381.1:c.3907A>T	XP_011520683.1:p.Lys1303Ter
XM_011522381.2:c.3907A>T	XP_011520683.1:p.Lys1303Ter
XM_017022944.1:c.4654A>T	XP_016878433.1:p.Lys1552Ter