Canonical Allele Identifier: CA493393996

Gene: CREBBP

Linked Data

• dbSNP Id: rs1335546261
• gnomAD v4: 16-3729017-C-A
• MyVariant Identifiers: chr16:g.3779018C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729017C>A , CM000678.2:g.3729017C>A	GRCh38
NC_000016.9:g.3779018C>A , CM000678.1:g.3779018C>A	GRCh37
NC_000016.8:g.3719019C>A	NCBI36
NG_009873.1:g.156104G>T
NG_009873.2:g.156697G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6030G>T MANE Select	ENSP00000262367.5:p.Gly2010=
ENST00000262367.9:c.6030G>T	ENSP00000262367.5:p.Gly2010=
ENST00000382070.7:c.5916G>T	ENSP00000371502.3:p.Gly1972=
NM_001079846.1:c.5916G>T	NP_001073315.1:p.Gly1972=
NM_004380.2:c.6030G>T	NP_004371.2:p.Gly2010=
XM_005255124.3:c.5985G>T	XP_005255181.1:p.Gly1995=
XM_005255125.3:c.5613G>T	XP_005255182.1:p.Gly1871=
XM_006720848.2:c.5769G>T	XP_006720911.1:p.Gly1923=
XM_011522380.1:c.5976G>T	XP_011520682.1:p.Gly1992=
XM_011522381.1:c.5277G>T	XP_011520683.1:p.Gly1759=
XM_005255124.4:c.5985G>T	XP_005255181.1:p.Gly1995=
XM_005255125.4:c.5613G>T	XP_005255182.1:p.Gly1871=
XM_006720848.3:c.5769G>T	XP_006720911.1:p.Gly1923=
XM_011522381.2:c.5277G>T	XP_011520683.1:p.Gly1759=
XM_017022944.1:c.6024G>T	XP_016878433.1:p.Gly2008=
NM_004380.3:c.6030G>T MANE Select	NP_004371.2:p.Gly2010=