Canonical Allele Identifier: CA493393703

Gene: CREBBP

Linked Data

• dbSNP Id: rs753988890
• gnomAD v4: 16-3728836-G-A
• MyVariant Identifiers: chr16:g.3778837G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6211C>T MANE Select	ENSP00000262367.5:p.Leu2071=
ENST00000262367.9:c.6211C>T	ENSP00000262367.5:p.Leu2071=
ENST00000382070.7:c.6097C>T	ENSP00000371502.3:p.Leu2033=
NM_001079846.1:c.6097C>T	NP_001073315.1:p.Leu2033=
NM_004380.2:c.6211C>T	NP_004371.2:p.Leu2071=
XM_005255124.3:c.6166C>T	XP_005255181.1:p.Leu2056=
XM_005255125.3:c.5794C>T	XP_005255182.1:p.Leu1932=
XM_006720848.2:c.5950C>T	XP_006720911.1:p.Leu1984=
XM_011522380.1:c.6157C>T	XP_011520682.1:p.Leu2053=
XM_011522381.1:c.5458C>T	XP_011520683.1:p.Leu1820=
XM_005255124.4:c.6166C>T	XP_005255181.1:p.Leu2056=
XM_005255125.4:c.5794C>T	XP_005255182.1:p.Leu1932=
XM_006720848.3:c.5950C>T	XP_006720911.1:p.Leu1984=
XM_011522381.2:c.5458C>T	XP_011520683.1:p.Leu1820=
XM_017022944.1:c.6205C>T	XP_016878433.1:p.Leu2069=
NM_004380.3:c.6211C>T MANE Select	NP_004371.2:p.Leu2071=