Canonical Allele Identifier: CA7869792

Gene: CREBBP

Linked Data

• dbSNP Id: rs778075129
• ExAC: 16:3807804 C / T
• gnomAD v2: 16-3807804-C-T
• gnomAD v3: 16-3757803-C-T
• gnomAD v4: 16-3757803-C-T
• MyVariant Identifiers: chr16:g.3807804C>T (hg19) ; chr16:g.3757803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757803C>T , CM000678.2:g.3757803C>T	GRCh38
NC_000016.9:g.3807804C>T , CM000678.1:g.3807804C>T	GRCh37
NC_000016.8:g.3747805C>T	NCBI36
NG_009873.1:g.127318G>A
NG_009873.2:g.127911G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3609+6G>A MANE Select	ENSP00000262367.5:n.3609+6G>A
ENST00000262367.9:c.3609+6G>A	ENSP00000262367.5:n.3609+6G>A
ENST00000382070.7:c.3495+6G>A	ENSP00000371502.3:n.3495+6G>A
ENST00000570939.2:c.2214+6G>A	ENSP00000461002.2:n.2214+6G>A
NM_001079846.1:c.3495+6G>A	NP_001073315.1:n.3495+6G>A
NM_004380.2:c.3609+6G>A	NP_004371.2:n.3609+6G>A
XM_005255124.3:c.3564+6G>A	XP_005255181.1:n.3564+6G>A
XM_005255125.3:c.3192+6G>A	XP_005255182.1:n.3192+6G>A
XM_006720848.2:c.3609+6G>A	XP_006720911.1:n.3609+6G>A
XM_011522380.1:c.3555+6G>A	XP_011520682.1:n.3555+6G>A
XM_011522381.1:c.2856+6G>A	XP_011520683.1:n.2856+6G>A
XM_011522382.1:c.3609+6G>A	XP_011520684.1:n.3609+6G>A
XM_005255124.4:c.3564+6G>A	XP_005255181.1:n.3564+6G>A
XM_005255125.4:c.3192+6G>A	XP_005255182.1:n.3192+6G>A
XM_006720848.3:c.3609+6G>A	XP_006720911.1:n.3609+6G>A
XM_011522381.2:c.2856+6G>A	XP_011520683.1:n.2856+6G>A
XM_011522382.3:c.3609+6G>A	XP_011520684.1:n.3609+6G>A
XM_017022944.1:c.3603+6G>A	XP_016878433.1:n.3603+6G>A
NM_004380.3:c.3609+6G>A MANE Select	NP_004371.2:n.3609+6G>A