Canonical Allele Identifier: CA394552628

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728569C>T , CM000678.2:g.3728569C>T	GRCh38
NC_000016.9:g.3778570C>T , CM000678.1:g.3778570C>T	GRCh37
NC_000016.8:g.3718571C>T	NCBI36
NG_009873.1:g.156552G>A
NG_009873.2:g.157145G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6478G>A MANE Select	NP_004371.2:p.Ala2160Thr
ENST00000262367.10:c.6478G>A MANE Select	ENSP00000262367.5:p.Ala2160Thr
NM_001079846.1:c.6364G>A	NP_001073315.1:p.Ala2122Thr
NM_004380.2:c.6478G>A	NP_004371.2:p.Ala2160Thr
ENST00000262367.9:c.6478G>A	ENSP00000262367.5:p.Ala2160Thr
ENST00000382070.7:c.6364G>A	ENSP00000371502.3:p.Ala2122Thr
XM_005255124.3:c.6433G>A	XP_005255181.1:p.Ala2145Thr
XM_005255124.4:c.6433G>A	XP_005255181.1:p.Ala2145Thr
XM_005255125.3:c.6061G>A	XP_005255182.1:p.Ala2021Thr
XM_005255125.4:c.6061G>A	XP_005255182.1:p.Ala2021Thr
XM_006720848.2:c.6217G>A	XP_006720911.1:p.Ala2073Thr
XM_006720848.3:c.6217G>A	XP_006720911.1:p.Ala2073Thr
XM_011522380.1:c.6424G>A	XP_011520682.1:p.Ala2142Thr
XM_011522381.1:c.5725G>A	XP_011520683.1:p.Ala1909Thr
XM_011522381.2:c.5725G>A	XP_011520683.1:p.Ala1909Thr
XM_017022944.1:c.6472G>A	XP_016878433.1:p.Ala2158Thr