Canonical Allele Identifier: CA394566577

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3744921G>A , CM000678.2:g.3744921G>A	GRCh38
NC_000016.9:g.3794922G>A , CM000678.1:g.3794922G>A	GRCh37
NC_000016.8:g.3734923G>A	NCBI36
NG_009873.1:g.140200C>T
NG_009873.2:g.140793C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3955C>T MANE Select	NP_004371.2:p.Arg1319Ter
ENST00000262367.10:c.3955C>T MANE Select	ENSP00000262367.5:p.Arg1319Ter
NM_001079846.1:c.3841C>T	NP_001073315.1:p.Arg1281Ter
NM_004380.2:c.3955C>T	NP_004371.2:p.Arg1319Ter
ENST00000262367.9:c.3955C>T	ENSP00000262367.5:p.Arg1319Ter
ENST00000382070.7:c.3841C>T	ENSP00000371502.3:p.Arg1281Ter
ENST00000570939.2:c.2590C>T	ENSP00000461002.2:p.Arg864Ter
ENST00000572569.1:n.419C>T
ENST00000573517.6:c.261C>T
ENST00000574740.1:n.37C>T
ENST00000635919.1:n.3C>T
XM_005255124.3:c.3910C>T	XP_005255181.1:p.Arg1304Ter
XM_005255124.4:c.3910C>T	XP_005255181.1:p.Arg1304Ter
XM_005255125.3:c.3538C>T	XP_005255182.1:p.Arg1180Ter
XM_005255125.4:c.3538C>T	XP_005255182.1:p.Arg1180Ter
XM_006720848.2:c.3955C>T	XP_006720911.1:p.Arg1319Ter
XM_006720848.3:c.3955C>T	XP_006720911.1:p.Arg1319Ter
XM_011522380.1:c.3901C>T	XP_011520682.1:p.Arg1301Ter
XM_011522381.1:c.3202C>T	XP_011520683.1:p.Arg1068Ter
XM_011522381.2:c.3202C>T	XP_011520683.1:p.Arg1068Ter
XM_017022944.1:c.3949C>T	XP_016878433.1:p.Arg1317Ter