Canonical Allele Identifier: CA394554848

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3729094-G-T
• MyVariant Identifiers: chr16:g.3779095G>T (hg19) ; chr16:g.3729094G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729094G>T , CM000678.2:g.3729094G>T	GRCh38
NC_000016.9:g.3779095G>T , CM000678.1:g.3779095G>T	GRCh37
NC_000016.8:g.3719096G>T	NCBI36
NG_009873.1:g.156027C>A
NG_009873.2:g.156620C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5953C>A MANE Select	ENSP00000262367.5:p.Arg1985Ser
ENST00000262367.9:c.5953C>A	ENSP00000262367.5:p.Arg1985Ser
ENST00000382070.7:c.5839C>A	ENSP00000371502.3:p.Arg1947Ser
NM_001079846.1:c.5839C>A	NP_001073315.1:p.Arg1947Ser
NM_004380.2:c.5953C>A	NP_004371.2:p.Arg1985Ser
XM_005255124.3:c.5908C>A	XP_005255181.1:p.Arg1970Ser
XM_005255125.3:c.5536C>A	XP_005255182.1:p.Arg1846Ser
XM_006720848.2:c.5692C>A	XP_006720911.1:p.Arg1898Ser
XM_011522380.1:c.5899C>A	XP_011520682.1:p.Arg1967Ser
XM_011522381.1:c.5200C>A	XP_011520683.1:p.Arg1734Ser
XM_005255124.4:c.5908C>A	XP_005255181.1:p.Arg1970Ser
XM_005255125.4:c.5536C>A	XP_005255182.1:p.Arg1846Ser
XM_006720848.3:c.5692C>A	XP_006720911.1:p.Arg1898Ser
XM_011522381.2:c.5200C>A	XP_011520683.1:p.Arg1734Ser
XM_017022944.1:c.5947C>A	XP_016878433.1:p.Arg1983Ser
NM_004380.3:c.5953C>A MANE Select	NP_004371.2:p.Arg1985Ser