Canonical Allele Identifier: CA7870284

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 588969
• ClinVar RCV Id: RCV002315462
• dbSNP Id: rs375125948
• ExAC: 16:3828062 G / A
• gnomAD v2: 16-3828062-G-A
• gnomAD v3: 16-3778061-G-A
• gnomAD v4: 16-3778061-G-A
• MyVariant Identifiers: chr16:g.3828062G>A (hg19) ; chr16:g.3778061G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778061G>A , CM000678.2:g.3778061G>A	GRCh38
NC_000016.9:g.3828062G>A , CM000678.1:g.3828062G>A	GRCh37
NC_000016.8:g.3768063G>A	NCBI36
NG_009873.1:g.107060C>T
NG_009873.2:g.107653C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2063C>T MANE Select	ENSP00000262367.5:p.Pro688Leu
ENST00000262367.9:c.2063C>T	ENSP00000262367.5:p.Pro688Leu
ENST00000382070.7:c.1949C>T	ENSP00000371502.3:p.Pro650Leu
ENST00000570939.2:c.668C>T	ENSP00000461002.2:p.Pro223Leu
ENST00000571826.5:c.112C>T
ENST00000572134.1:c.376C>T
ENST00000634839.1:n.225C>T
NM_001079846.1:c.1949C>T	NP_001073315.1:p.Pro650Leu
NM_004380.2:c.2063C>T	NP_004371.2:p.Pro688Leu
XM_005255124.3:c.2063C>T	XP_005255181.1:p.Pro688Leu
XM_005255125.3:c.2063C>T	XP_005255182.1:p.Pro688Leu
XM_006720848.2:c.2063C>T	XP_006720911.1:p.Pro688Leu
XM_011522380.1:c.2009C>T	XP_011520682.1:p.Pro670Leu
XM_011522381.1:c.1310C>T	XP_011520683.1:p.Pro437Leu
XM_011522382.1:c.2063C>T	XP_011520684.1:p.Pro688Leu
XM_005255124.4:c.2063C>T	XP_005255181.1:p.Pro688Leu
XM_005255125.4:c.2063C>T	XP_005255182.1:p.Pro688Leu
XM_006720848.3:c.2063C>T	XP_006720911.1:p.Pro688Leu
XM_011522381.2:c.1310C>T	XP_011520683.1:p.Pro437Leu
XM_011522382.3:c.2063C>T	XP_011520684.1:p.Pro688Leu
XM_017022944.1:c.2063C>T	XP_016878433.1:p.Pro688Leu
NM_004380.3:c.2063C>T MANE Select	NP_004371.2:p.Pro688Leu