Canonical Allele Identifier: CA7868928

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 2148603
• ClinVar RCV Id: RCV003063478
• dbSNP Id: rs749448607
• ExAC: 16:3777805 G / A
• gnomAD v2: 16-3777805-G-A
• gnomAD v3: 16-3727804-G-A
• gnomAD v4: 16-3727804-G-A
• MyVariant Identifiers: chr16:g.3777805G>A (hg19) ; chr16:g.3727804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727804G>A , CM000678.2:g.3727804G>A	GRCh38
NC_000016.9:g.3777805G>A , CM000678.1:g.3777805G>A	GRCh37
NC_000016.8:g.3717806G>A	NCBI36
NG_009873.1:g.157317C>T
NG_009873.2:g.157910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7243C>T MANE Select	ENSP00000262367.5:p.Pro2415Ser
ENST00000262367.9:c.7243C>T	ENSP00000262367.5:p.Pro2415Ser
ENST00000382070.7:c.7129C>T	ENSP00000371502.3:p.Pro2377Ser
NM_001079846.1:c.7129C>T	NP_001073315.1:p.Pro2377Ser
NM_004380.2:c.7243C>T	NP_004371.2:p.Pro2415Ser
XM_005255124.3:c.7198C>T	XP_005255181.1:p.Pro2400Ser
XM_005255125.3:c.6826C>T	XP_005255182.1:p.Pro2276Ser
XM_006720848.2:c.6982C>T	XP_006720911.1:p.Pro2328Ser
XM_011522380.1:c.7189C>T	XP_011520682.1:p.Pro2397Ser
XM_011522381.1:c.6490C>T	XP_011520683.1:p.Pro2164Ser
XM_005255124.4:c.7198C>T	XP_005255181.1:p.Pro2400Ser
XM_005255125.4:c.6826C>T	XP_005255182.1:p.Pro2276Ser
XM_006720848.3:c.6982C>T	XP_006720911.1:p.Pro2328Ser
XM_011522381.2:c.6490C>T	XP_011520683.1:p.Pro2164Ser
XM_017022944.1:c.7237C>T	XP_016878433.1:p.Pro2413Ser
NM_004380.3:c.7243C>T MANE Select	NP_004371.2:p.Pro2415Ser