Canonical Allele Identifier: CA394568528

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757378T>C , CM000678.2:g.3757378T>C	GRCh38
NC_000016.9:g.3807379T>C , CM000678.1:g.3807379T>C	GRCh37
NC_000016.8:g.3747380T>C	NCBI36
NG_009873.1:g.127743A>G
NG_009873.2:g.128336A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.3610-2A>G MANE Select	NP_004371.2:n.3610-2A>G
ENST00000262367.10:c.3610-2A>G MANE Select	ENSP00000262367.5:n.3610-2A>G
NM_001079846.1:c.3496-2A>G	NP_001073315.1:n.3496-2A>G
NM_004380.2:c.3610-2A>G	NP_004371.2:n.3610-2A>G
ENST00000262367.9:c.3610-2A>G	ENSP00000262367.5:n.3610-2A>G
ENST00000382070.7:c.3496-2A>G	ENSP00000371502.3:n.3496-2A>G
ENST00000570939.2:c.2215-2A>G	ENSP00000461002.2:n.2215-2A>G
XM_005255124.3:c.3565-2A>G	XP_005255181.1:n.3565-2A>G
XM_005255124.4:c.3565-2A>G	XP_005255181.1:n.3565-2A>G
XM_005255125.3:c.3193-2A>G	XP_005255182.1:n.3193-2A>G
XM_005255125.4:c.3193-2A>G	XP_005255182.1:n.3193-2A>G
XM_006720848.2:c.3610-2A>G	XP_006720911.1:n.3610-2A>G
XM_006720848.3:c.3610-2A>G	XP_006720911.1:n.3610-2A>G
XM_011522380.1:c.3556-2A>G	XP_011520682.1:n.3556-2A>G
XM_011522381.1:c.2857-2A>G	XP_011520683.1:n.2857-2A>G
XM_011522381.2:c.2857-2A>G	XP_011520683.1:n.2857-2A>G
XM_011522382.1:c.3610-2A>G	XP_011520684.1:n.3610-2A>G
XM_011522382.3:c.3610-2A>G	XP_011520684.1:n.3610-2A>G
XM_017022944.1:c.3604-2A>G	XP_016878433.1:n.3604-2A>G