Canonical Allele Identifier: CA394570708

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3767807C>A , CM000678.2:g.3767807C>A	GRCh38
NC_000016.9:g.3817808C>A , CM000678.1:g.3817808C>A	GRCh37
NC_000016.8:g.3757809C>A	NCBI36
NG_009873.1:g.117314G>T
NG_009873.2:g.117907G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3163G>T MANE Select	ENSP00000262367.5:p.Val1055Leu
ENST00000262367.9:c.3163G>T	ENSP00000262367.5:p.Val1055Leu
ENST00000382070.7:c.3049G>T	ENSP00000371502.3:p.Val1017Leu
ENST00000570939.2:c.1768G>T	ENSP00000461002.2:p.Val590Leu
ENST00000573672.1:n.417G>T
NM_001079846.1:c.3049G>T	NP_001073315.1:p.Val1017Leu
NM_004380.2:c.3163G>T	NP_004371.2:p.Val1055Leu
XM_005255124.3:c.3118G>T	XP_005255181.1:p.Val1040Leu
XM_005255125.3:c.2746G>T	XP_005255182.1:p.Val916Leu
XM_006720848.2:c.3163G>T	XP_006720911.1:p.Val1055Leu
XM_011522380.1:c.3109G>T	XP_011520682.1:p.Val1037Leu
XM_011522381.1:c.2410G>T	XP_011520683.1:p.Val804Leu
XM_011522382.1:c.3163G>T	XP_011520684.1:p.Val1055Leu
XM_005255124.4:c.3118G>T	XP_005255181.1:p.Val1040Leu
XM_005255125.4:c.2746G>T	XP_005255182.1:p.Val916Leu
XM_006720848.3:c.3163G>T	XP_006720911.1:p.Val1055Leu
XM_011522381.2:c.2410G>T	XP_011520683.1:p.Val804Leu
XM_011522382.3:c.3163G>T	XP_011520684.1:p.Val1055Leu
XM_017022944.1:c.3157G>T	XP_016878433.1:p.Val1053Leu
NM_004380.3:c.3163G>T MANE Select	NP_004371.2:p.Val1055Leu