Canonical Allele Identifier: CA276987666

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1914052
• ClinVar RCV Id: RCV002590175
• dbSNP Id: rs929503319
• gnomAD v2: 16-3900915-G-T
• gnomAD v3: 16-3850914-G-T
• gnomAD v4: 16-3850914-G-T
• MyVariant Identifiers: chr16:g.3900915G>T (hg19) ; chr16:g.3850914G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850914G>T , CM000678.2:g.3850914G>T	GRCh38
NC_000016.9:g.3900915G>T , CM000678.1:g.3900915G>T	GRCh37
NC_000016.8:g.3840916G>T	NCBI36
NG_009873.1:g.34207C>A
NG_009873.2:g.34800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.181C>A MANE Select	ENSP00000262367.5:p.Pro61Thr
ENST00000262367.9:c.181C>A	ENSP00000262367.5:p.Pro61Thr
ENST00000382070.7:c.181C>A	ENSP00000371502.3:p.Pro61Thr
NM_001079846.1:c.181C>A	NP_001073315.1:p.Pro61Thr
NM_004380.2:c.181C>A	NP_004371.2:p.Pro61Thr
XM_005255124.3:c.181C>A	XP_005255181.1:p.Pro61Thr
XM_005255125.3:c.181C>A	XP_005255182.1:p.Pro61Thr
XM_006720848.2:c.181C>A	XP_006720911.1:p.Pro61Thr
XM_011522380.1:c.127C>A	XP_011520682.1:p.Pro43Thr
XM_011522382.1:c.181C>A	XP_011520684.1:p.Pro61Thr
XM_005255124.4:c.181C>A	XP_005255181.1:p.Pro61Thr
XM_005255125.4:c.181C>A	XP_005255182.1:p.Pro61Thr
XM_006720848.3:c.181C>A	XP_006720911.1:p.Pro61Thr
XM_011522382.3:c.181C>A	XP_011520684.1:p.Pro61Thr
XM_017022944.1:c.181C>A	XP_016878433.1:p.Pro61Thr
NM_004380.3:c.181C>A MANE Select	NP_004371.2:p.Pro61Thr