Canonical Allele Identifier: CA2631423860

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3757705-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757705A>G , CM000678.2:g.3757705A>G	GRCh38
NC_000016.9:g.3807706A>G , CM000678.1:g.3807706A>G	GRCh37
NC_000016.8:g.3747707A>G	NCBI36
NG_009873.1:g.127416T>C
NG_009873.2:g.128009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3609+104T>C MANE Select	ENSP00000262367.5:n.3609+104T>C
ENST00000262367.9:c.3609+104T>C	ENSP00000262367.5:n.3609+104T>C
ENST00000382070.7:c.3495+104T>C	ENSP00000371502.3:n.3495+104T>C
ENST00000570939.2:c.2214+104T>C	ENSP00000461002.2:n.2214+104T>C
NM_001079846.1:c.3495+104T>C	NP_001073315.1:n.3495+104T>C
NM_004380.2:c.3609+104T>C	NP_004371.2:n.3609+104T>C
XM_005255124.3:c.3564+104T>C	XP_005255181.1:n.3564+104T>C
XM_005255125.3:c.3192+104T>C	XP_005255182.1:n.3192+104T>C
XM_006720848.2:c.3609+104T>C	XP_006720911.1:n.3609+104T>C
XM_011522380.1:c.3555+104T>C	XP_011520682.1:n.3555+104T>C
XM_011522381.1:c.2856+104T>C	XP_011520683.1:n.2856+104T>C
XM_011522382.1:c.3609+104T>C	XP_011520684.1:n.3609+104T>C
XM_005255124.4:c.3564+104T>C	XP_005255181.1:n.3564+104T>C
XM_005255125.4:c.3192+104T>C	XP_005255182.1:n.3192+104T>C
XM_006720848.3:c.3609+104T>C	XP_006720911.1:n.3609+104T>C
XM_011522381.2:c.2856+104T>C	XP_011520683.1:n.2856+104T>C
XM_011522382.3:c.3609+104T>C	XP_011520684.1:n.3609+104T>C
XM_017022944.1:c.3603+104T>C	XP_016878433.1:n.3603+104T>C
NM_004380.3:c.3609+104T>C MANE Select	NP_004371.2:n.3609+104T>C