Canonical Allele Identifier: CA7869159

Gene: CREBBP

Linked Data

• dbSNP Id: rs753988890
• ExAC: 16:3778837 G / T
• gnomAD v2: 16-3778837-G-T
• gnomAD v4: 16-3728836-G-T
• MyVariant Identifiers: chr16:g.3778837G>T (hg19) ; chr16:g.3728836G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728836G>T , CM000678.2:g.3728836G>T	GRCh38
NC_000016.9:g.3778837G>T , CM000678.1:g.3778837G>T	GRCh37
NC_000016.8:g.3718838G>T	NCBI36
NG_009873.1:g.156285C>A
NG_009873.2:g.156878C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6211C>A MANE Select	ENSP00000262367.5:p.Leu2071Met
ENST00000262367.9:c.6211C>A	ENSP00000262367.5:p.Leu2071Met
ENST00000382070.7:c.6097C>A	ENSP00000371502.3:p.Leu2033Met
NM_001079846.1:c.6097C>A	NP_001073315.1:p.Leu2033Met
NM_004380.2:c.6211C>A	NP_004371.2:p.Leu2071Met
XM_005255124.3:c.6166C>A	XP_005255181.1:p.Leu2056Met
XM_005255125.3:c.5794C>A	XP_005255182.1:p.Leu1932Met
XM_006720848.2:c.5950C>A	XP_006720911.1:p.Leu1984Met
XM_011522380.1:c.6157C>A	XP_011520682.1:p.Leu2053Met
XM_011522381.1:c.5458C>A	XP_011520683.1:p.Leu1820Met
XM_005255124.4:c.6166C>A	XP_005255181.1:p.Leu2056Met
XM_005255125.4:c.5794C>A	XP_005255182.1:p.Leu1932Met
XM_006720848.3:c.5950C>A	XP_006720911.1:p.Leu1984Met
XM_011522381.2:c.5458C>A	XP_011520683.1:p.Leu1820Met
XM_017022944.1:c.6205C>A	XP_016878433.1:p.Leu2069Met
NM_004380.3:c.6211C>A MANE Select	NP_004371.2:p.Leu2071Met