Canonical Allele Identifier: CA7869654

Gene: CREBBP

Linked Data

• dbSNP Id: rs764074175
• ExAC: 16:3794907 A / T
• gnomAD v2: 16-3794907-A-T
• gnomAD v3: 16-3744906-A-T
• gnomAD v4: 16-3744906-A-T
• MyVariant Identifiers: chr16:g.3794907A>T (hg19) ; chr16:g.3744906A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3744906A>T , CM000678.2:g.3744906A>T	GRCh38
NC_000016.9:g.3794907A>T , CM000678.1:g.3794907A>T	GRCh37
NC_000016.8:g.3734908A>T	NCBI36
NG_009873.1:g.140215T>A
NG_009873.2:g.140808T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3970T>A MANE Select	ENSP00000262367.5:p.Phe1324Ile
ENST00000635919.1:n.18T>A
ENST00000262367.9:c.3970T>A	ENSP00000262367.5:p.Phe1324Ile
ENST00000382070.7:c.3856T>A	ENSP00000371502.3:p.Phe1286Ile
ENST00000570939.2:c.2605T>A	ENSP00000461002.2:p.Phe869Ile
ENST00000572569.1:n.434T>A
ENST00000573517.6:c.276T>A
ENST00000574740.1:n.52T>A
NM_001079846.1:c.3856T>A	NP_001073315.1:p.Phe1286Ile
NM_004380.2:c.3970T>A	NP_004371.2:p.Phe1324Ile
XM_005255124.3:c.3925T>A	XP_005255181.1:p.Phe1309Ile
XM_005255125.3:c.3553T>A	XP_005255182.1:p.Phe1185Ile
XM_006720848.2:c.3970T>A	XP_006720911.1:p.Phe1324Ile
XM_011522380.1:c.3916T>A	XP_011520682.1:p.Phe1306Ile
XM_011522381.1:c.3217T>A	XP_011520683.1:p.Phe1073Ile
XM_005255124.4:c.3925T>A	XP_005255181.1:p.Phe1309Ile
XM_005255125.4:c.3553T>A	XP_005255182.1:p.Phe1185Ile
XM_006720848.3:c.3970T>A	XP_006720911.1:p.Phe1324Ile
XM_011522381.2:c.3217T>A	XP_011520683.1:p.Phe1073Ile
XM_017022944.1:c.3964T>A	XP_016878433.1:p.Phe1322Ile
NM_004380.3:c.3970T>A MANE Select	NP_004371.2:p.Phe1324Ile