Canonical Allele Identifier: CA394555076

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778699C>A , CM000678.2:g.3778699C>A	GRCh38
NC_000016.9:g.3828700C>A , CM000678.1:g.3828700C>A	GRCh37
NC_000016.8:g.3768701C>A	NCBI36
NG_009873.1:g.106422G>T
NG_009873.2:g.107015G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.1941+1G>T MANE Select	NP_004371.2:n.1941+1G>T
ENST00000262367.10:c.1941+1G>T MANE Select	ENSP00000262367.5:n.1941+1G>T
NM_001079846.1:c.1827+1G>T	NP_001073315.1:n.1827+1G>T
NM_004380.2:c.1941+1G>T	NP_004371.2:n.1941+1G>T
ENST00000262367.9:c.1941+1G>T	ENSP00000262367.5:n.1941+1G>T
ENST00000382070.7:c.1827+1G>T	ENSP00000371502.3:n.1827+1G>T
ENST00000570939.2:c.546+1G>T	ENSP00000461002.2:n.546+1G>T
ENST00000572134.1:c.254+1G>T
ENST00000634839.1:n.103+1G>T
XM_005255124.3:c.1941+1G>T	XP_005255181.1:n.1941+1G>T
XM_005255124.4:c.1941+1G>T	XP_005255181.1:n.1941+1G>T
XM_005255125.3:c.1941+1G>T	XP_005255182.1:n.1941+1G>T
XM_005255125.4:c.1941+1G>T	XP_005255182.1:n.1941+1G>T
XM_006720848.2:c.1941+1G>T	XP_006720911.1:n.1941+1G>T
XM_006720848.3:c.1941+1G>T	XP_006720911.1:n.1941+1G>T
XM_011522380.1:c.1887+1G>T	XP_011520682.1:n.1887+1G>T
XM_011522381.1:c.1188+1G>T	XP_011520683.1:n.1188+1G>T
XM_011522381.2:c.1188+1G>T	XP_011520683.1:n.1188+1G>T
XM_011522382.1:c.1941+1G>T	XP_011520684.1:n.1941+1G>T
XM_011522382.3:c.1941+1G>T	XP_011520684.1:n.1941+1G>T
XM_017022944.1:c.1941+1G>T	XP_016878433.1:n.1941+1G>T