Canonical Allele Identifier: CA394554077

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728902-C-A
• MyVariant Identifiers: chr16:g.3778903C>A (hg19) ; chr16:g.3728902C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728902C>A , CM000678.2:g.3728902C>A	GRCh38
NC_000016.9:g.3778903C>A , CM000678.1:g.3778903C>A	GRCh37
NC_000016.8:g.3718904C>A	NCBI36
NG_009873.1:g.156219G>T
NG_009873.2:g.156812G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6145G>T MANE Select	ENSP00000262367.5:p.Ala2049Ser
ENST00000262367.9:c.6145G>T	ENSP00000262367.5:p.Ala2049Ser
ENST00000382070.7:c.6031G>T	ENSP00000371502.3:p.Ala2011Ser
NM_001079846.1:c.6031G>T	NP_001073315.1:p.Ala2011Ser
NM_004380.2:c.6145G>T	NP_004371.2:p.Ala2049Ser
XM_005255124.3:c.6100G>T	XP_005255181.1:p.Ala2034Ser
XM_005255125.3:c.5728G>T	XP_005255182.1:p.Ala1910Ser
XM_006720848.2:c.5884G>T	XP_006720911.1:p.Ala1962Ser
XM_011522380.1:c.6091G>T	XP_011520682.1:p.Ala2031Ser
XM_011522381.1:c.5392G>T	XP_011520683.1:p.Ala1798Ser
XM_005255124.4:c.6100G>T	XP_005255181.1:p.Ala2034Ser
XM_005255125.4:c.5728G>T	XP_005255182.1:p.Ala1910Ser
XM_006720848.3:c.5884G>T	XP_006720911.1:p.Ala1962Ser
XM_011522381.2:c.5392G>T	XP_011520683.1:p.Ala1798Ser
XM_017022944.1:c.6139G>T	XP_016878433.1:p.Ala2047Ser
NM_004380.3:c.6145G>T MANE Select	NP_004371.2:p.Ala2049Ser