Canonical Allele Identifier: CA620462782

Gene: CREBBP

Linked Data

• dbSNP Id: rs1426169068
• gnomAD v2: 16-3787025-C-T
• gnomAD v4: 16-3737024-C-T
• MyVariant Identifiers: chr16:g.3787025C>T (hg19) ; chr16:g.3737024C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3737024C>T , CM000678.2:g.3737024C>T	GRCh38
NC_000016.9:g.3787025C>T , CM000678.1:g.3787025C>T	GRCh37
NC_000016.8:g.3727026C>T	NCBI36
NG_009873.1:g.148097G>A
NG_009873.2:g.148690G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4395-209G>A MANE Select	ENSP00000262367.5:n.4395-209G>A
ENST00000262367.9:c.4395-209G>A	ENSP00000262367.5:n.4395-209G>A
ENST00000382070.7:c.4281-209G>A	ENSP00000371502.3:n.4281-209G>A
ENST00000570939.2:c.3030-209G>A	ENSP00000461002.2:n.3030-209G>A
ENST00000574740.1:n.216-209G>A
ENST00000576720.1:n.3218-209G>A
NM_001079846.1:c.4281-209G>A	NP_001073315.1:n.4281-209G>A
NM_004380.2:c.4395-209G>A	NP_004371.2:n.4395-209G>A
XM_005255124.3:c.4350-209G>A	XP_005255181.1:n.4350-209G>A
XM_005255125.3:c.3978-209G>A	XP_005255182.1:n.3978-209G>A
XM_006720848.2:c.4134-209G>A	XP_006720911.1:n.4134-209G>A
XM_011522380.1:c.4341-209G>A	XP_011520682.1:n.4341-209G>A
XM_011522381.1:c.3642-209G>A	XP_011520683.1:n.3642-209G>A
XM_005255124.4:c.4350-209G>A	XP_005255181.1:n.4350-209G>A
XM_005255125.4:c.3978-209G>A	XP_005255182.1:n.3978-209G>A
XM_006720848.3:c.4134-209G>A	XP_006720911.1:n.4134-209G>A
XM_011522381.2:c.3642-209G>A	XP_011520683.1:n.3642-209G>A
XM_017022944.1:c.4389-209G>A	XP_016878433.1:n.4389-209G>A
NM_004380.3:c.4395-209G>A MANE Select	NP_004371.2:n.4395-209G>A