Canonical Allele Identifier: CA973904703

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051866292
• gnomAD v3: 16-3729924-C-T
• gnomAD v4: 16-3729924-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729924C>T , CM000678.2:g.3729924C>T	GRCh38
NC_000016.9:g.3779925C>T , CM000678.1:g.3779925C>T	GRCh37
NC_000016.8:g.3719926C>T	NCBI36
NG_009873.1:g.155197G>A
NG_009873.2:g.155790G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5173-50G>A MANE Select	ENSP00000262367.5:n.5173-50G>A
ENST00000262367.9:c.5173-50G>A	ENSP00000262367.5:n.5173-50G>A
ENST00000382070.7:c.5059-50G>A	ENSP00000371502.3:n.5059-50G>A
NM_001079846.1:c.5059-50G>A	NP_001073315.1:n.5059-50G>A
NM_004380.2:c.5173-50G>A	NP_004371.2:n.5173-50G>A
XM_005255124.3:c.5128-50G>A	XP_005255181.1:n.5128-50G>A
XM_005255125.3:c.4756-50G>A	XP_005255182.1:n.4756-50G>A
XM_006720848.2:c.4912-50G>A	XP_006720911.1:n.4912-50G>A
XM_011522380.1:c.5119-50G>A	XP_011520682.1:n.5119-50G>A
XM_011522381.1:c.4420-50G>A	XP_011520683.1:n.4420-50G>A
XM_005255124.4:c.5128-50G>A	XP_005255181.1:n.5128-50G>A
XM_005255125.4:c.4756-50G>A	XP_005255182.1:n.4756-50G>A
XM_006720848.3:c.4912-50G>A	XP_006720911.1:n.4912-50G>A
XM_011522381.2:c.4420-50G>A	XP_011520683.1:n.4420-50G>A
XM_017022944.1:c.5167-50G>A	XP_016878433.1:n.5167-50G>A
NM_004380.3:c.5173-50G>A MANE Select	NP_004371.2:n.5173-50G>A