Canonical Allele Identifier: CA2840890591

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757753C>A , CM000678.2:g.3757753C>A	GRCh38
NC_000016.9:g.3807754C>A , CM000678.1:g.3807754C>A	GRCh37
NC_000016.8:g.3747755C>A	NCBI36
NG_009873.1:g.127368G>T
NG_009873.2:g.127961G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3609+56G>T MANE Select	ENSP00000262367.5:n.3609+56G>T
ENST00000262367.9:c.3609+56G>T	ENSP00000262367.5:n.3609+56G>T
ENST00000382070.7:c.3495+56G>T	ENSP00000371502.3:n.3495+56G>T
ENST00000570939.2:c.2214+56G>T	ENSP00000461002.2:n.2214+56G>T
NM_001079846.1:c.3495+56G>T	NP_001073315.1:n.3495+56G>T
NM_004380.2:c.3609+56G>T	NP_004371.2:n.3609+56G>T
XM_005255124.3:c.3564+56G>T	XP_005255181.1:n.3564+56G>T
XM_005255125.3:c.3192+56G>T	XP_005255182.1:n.3192+56G>T
XM_006720848.2:c.3609+56G>T	XP_006720911.1:n.3609+56G>T
XM_011522380.1:c.3555+56G>T	XP_011520682.1:n.3555+56G>T
XM_011522381.1:c.2856+56G>T	XP_011520683.1:n.2856+56G>T
XM_011522382.1:c.3609+56G>T	XP_011520684.1:n.3609+56G>T
XM_005255124.4:c.3564+56G>T	XP_005255181.1:n.3564+56G>T
XM_005255125.4:c.3192+56G>T	XP_005255182.1:n.3192+56G>T
XM_006720848.3:c.3609+56G>T	XP_006720911.1:n.3609+56G>T
XM_011522381.2:c.2856+56G>T	XP_011520683.1:n.2856+56G>T
XM_011522382.3:c.3609+56G>T	XP_011520684.1:n.3609+56G>T
XM_017022944.1:c.3603+56G>T	XP_016878433.1:n.3603+56G>T
NM_004380.3:c.3609+56G>T MANE Select	NP_004371.2:n.3609+56G>T