Canonical Allele Identifier: CA276979948

Gene: CREBBP

Linked Data

• dbSNP Id: rs774443451
• gnomAD v2: 16-3786557-G-T
• gnomAD v3: 16-3736556-G-T
• gnomAD v4: 16-3736556-G-T
• MyVariant Identifiers: chr16:g.3786557G>T (hg19) ; chr16:g.3736556G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736556G>T , CM000678.2:g.3736556G>T	GRCh38
NC_000016.9:g.3786557G>T , CM000678.1:g.3786557G>T	GRCh37
NC_000016.8:g.3726558G>T	NCBI36
NG_009873.1:g.148565C>A
NG_009873.2:g.149158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4560+94C>A MANE Select	ENSP00000262367.5:n.4560+94C>A
ENST00000262367.9:c.4560+94C>A	ENSP00000262367.5:n.4560+94C>A
ENST00000382070.7:c.4446+94C>A	ENSP00000371502.3:n.4446+94C>A
ENST00000570939.2:c.3195+94C>A	ENSP00000461002.2:n.3195+94C>A
ENST00000571763.5:n.350+94C>A
ENST00000574740.1:n.475C>A
ENST00000576720.1:n.3383+94C>A
NM_001079846.1:c.4446+94C>A	NP_001073315.1:n.4446+94C>A
NM_004380.2:c.4560+94C>A	NP_004371.2:n.4560+94C>A
XM_005255124.3:c.4515+94C>A	XP_005255181.1:n.4515+94C>A
XM_005255125.3:c.4143+94C>A	XP_005255182.1:n.4143+94C>A
XM_006720848.2:c.4299+94C>A	XP_006720911.1:n.4299+94C>A
XM_011522380.1:c.4506+94C>A	XP_011520682.1:n.4506+94C>A
XM_011522381.1:c.3807+94C>A	XP_011520683.1:n.3807+94C>A
XM_005255124.4:c.4515+94C>A	XP_005255181.1:n.4515+94C>A
XM_005255125.4:c.4143+94C>A	XP_005255182.1:n.4143+94C>A
XM_006720848.3:c.4299+94C>A	XP_006720911.1:n.4299+94C>A
XM_011522381.2:c.3807+94C>A	XP_011520683.1:n.3807+94C>A
XM_017022944.1:c.4554+94C>A	XP_016878433.1:n.4554+94C>A
NM_004380.3:c.4560+94C>A MANE Select	NP_004371.2:n.4560+94C>A