Canonical Allele Identifier: CA394554139

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2182002
• ClinVar RCV Id: RCV002595942
• dbSNP Id: rs1333516070
• gnomAD v2: 16-3778918-C-T
• gnomAD v4: 16-3728917-C-T
• MyVariant Identifiers: chr16:g.3778918C>T (hg19) ; chr16:g.3728917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728917C>T , CM000678.2:g.3728917C>T	GRCh38
NC_000016.9:g.3778918C>T , CM000678.1:g.3778918C>T	GRCh37
NC_000016.8:g.3718919C>T	NCBI36
NG_009873.1:g.156204G>A
NG_009873.2:g.156797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6130G>A MANE Select	ENSP00000262367.5:p.Ala2044Thr
ENST00000262367.9:c.6130G>A	ENSP00000262367.5:p.Ala2044Thr
ENST00000382070.7:c.6016G>A	ENSP00000371502.3:p.Ala2006Thr
NM_001079846.1:c.6016G>A	NP_001073315.1:p.Ala2006Thr
NM_004380.2:c.6130G>A	NP_004371.2:p.Ala2044Thr
XM_005255124.3:c.6085G>A	XP_005255181.1:p.Ala2029Thr
XM_005255125.3:c.5713G>A	XP_005255182.1:p.Ala1905Thr
XM_006720848.2:c.5869G>A	XP_006720911.1:p.Ala1957Thr
XM_011522380.1:c.6076G>A	XP_011520682.1:p.Ala2026Thr
XM_011522381.1:c.5377G>A	XP_011520683.1:p.Ala1793Thr
XM_005255124.4:c.6085G>A	XP_005255181.1:p.Ala2029Thr
XM_005255125.4:c.5713G>A	XP_005255182.1:p.Ala1905Thr
XM_006720848.3:c.5869G>A	XP_006720911.1:p.Ala1957Thr
XM_011522381.2:c.5377G>A	XP_011520683.1:p.Ala1793Thr
XM_017022944.1:c.6124G>A	XP_016878433.1:p.Ala2042Thr
NM_004380.3:c.6130G>A MANE Select	NP_004371.2:p.Ala2044Thr