Canonical Allele Identifier: CA7870283

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 730378
• ClinVar RCV Id: RCV002495475 ; RCV002537582
• dbSNP Id: rs766050154
• ExAC: 16:3828061 C / T
• gnomAD v2: 16-3828061-C-T
• gnomAD v4: 16-3778060-C-T
• COSMIC: COSM3509563
• MyVariant Identifiers: chr16:g.3828061C>T (hg19) ; chr16:g.3778060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778060C>T , CM000678.2:g.3778060C>T	GRCh38
NC_000016.9:g.3828061C>T , CM000678.1:g.3828061C>T	GRCh37
NC_000016.8:g.3768062C>T	NCBI36
NG_009873.1:g.107061G>A
NG_009873.2:g.107654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2064G>A MANE Select	ENSP00000262367.5:p.Pro688=
ENST00000262367.9:c.2064G>A	ENSP00000262367.5:p.Pro688=
ENST00000382070.7:c.1950G>A	ENSP00000371502.3:p.Pro650=
ENST00000570939.2:c.669G>A	ENSP00000461002.2:p.Pro223=
ENST00000571826.5:c.113G>A
ENST00000572134.1:c.377G>A
ENST00000634839.1:n.226G>A
NM_001079846.1:c.1950G>A	NP_001073315.1:p.Pro650=
NM_004380.2:c.2064G>A	NP_004371.2:p.Pro688=
XM_005255124.3:c.2064G>A	XP_005255181.1:p.Pro688=
XM_005255125.3:c.2064G>A	XP_005255182.1:p.Pro688=
XM_006720848.2:c.2064G>A	XP_006720911.1:p.Pro688=
XM_011522380.1:c.2010G>A	XP_011520682.1:p.Pro670=
XM_011522381.1:c.1311G>A	XP_011520683.1:p.Pro437=
XM_011522382.1:c.2064G>A	XP_011520684.1:p.Pro688=
XM_005255124.4:c.2064G>A	XP_005255181.1:p.Pro688=
XM_005255125.4:c.2064G>A	XP_005255182.1:p.Pro688=
XM_006720848.3:c.2064G>A	XP_006720911.1:p.Pro688=
XM_011522381.2:c.1311G>A	XP_011520683.1:p.Pro437=
XM_011522382.3:c.2064G>A	XP_011520684.1:p.Pro688=
XM_017022944.1:c.2064G>A	XP_016878433.1:p.Pro688=
NM_004380.3:c.2064G>A MANE Select	NP_004371.2:p.Pro688=