Canonical Allele Identifier: CA394553853

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2850263
• ClinVar RCV Id: RCV003758594
• gnomAD v4: 16-3728820-G-T
• MyVariant Identifiers: chr16:g.3778821G>T (hg19) ; chr16:g.3728820G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728820G>T , CM000678.2:g.3728820G>T	GRCh38
NC_000016.9:g.3778821G>T , CM000678.1:g.3778821G>T	GRCh37
NC_000016.8:g.3718822G>T	NCBI36
NG_009873.1:g.156301C>A
NG_009873.2:g.156894C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6227C>A MANE Select	ENSP00000262367.5:p.Ser2076Ter
ENST00000262367.9:c.6227C>A	ENSP00000262367.5:p.Ser2076Ter
ENST00000382070.7:c.6113C>A	ENSP00000371502.3:p.Ser2038Ter
NM_001079846.1:c.6113C>A	NP_001073315.1:p.Ser2038Ter
NM_004380.2:c.6227C>A	NP_004371.2:p.Ser2076Ter
XM_005255124.3:c.6182C>A	XP_005255181.1:p.Ser2061Ter
XM_005255125.3:c.5810C>A	XP_005255182.1:p.Ser1937Ter
XM_006720848.2:c.5966C>A	XP_006720911.1:p.Ser1989Ter
XM_011522380.1:c.6173C>A	XP_011520682.1:p.Ser2058Ter
XM_011522381.1:c.5474C>A	XP_011520683.1:p.Ser1825Ter
XM_005255124.4:c.6182C>A	XP_005255181.1:p.Ser2061Ter
XM_005255125.4:c.5810C>A	XP_005255182.1:p.Ser1937Ter
XM_006720848.3:c.5966C>A	XP_006720911.1:p.Ser1989Ter
XM_011522381.2:c.5474C>A	XP_011520683.1:p.Ser1825Ter
XM_017022944.1:c.6221C>A	XP_016878433.1:p.Ser2074Ter
NM_004380.3:c.6227C>A MANE Select	NP_004371.2:p.Ser2076Ter