Canonical Allele Identifier: CA7870576

Gene: CREBBP

Linked Data

• dbSNP Id: rs775374550
• ExAC: 16:3860756 G / C
• gnomAD v2: 16-3860756-G-C
• gnomAD v4: 16-3810755-G-C
• MyVariant Identifiers: chr16:g.3860756G>C (hg19) ; chr16:g.3810755G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3810755G>C , CM000678.2:g.3810755G>C	GRCh38
NC_000016.9:g.3860756G>C , CM000678.1:g.3860756G>C	GRCh37
NC_000016.8:g.3800757G>C	NCBI36
NG_009873.1:g.74366C>G
NG_009873.2:g.74959C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.823C>G MANE Select	ENSP00000262367.5:p.Pro275Ala
ENST00000635899.1:n.65C>G
ENST00000262367.9:c.823C>G	ENSP00000262367.5:p.Pro275Ala
ENST00000382070.7:c.823C>G	ENSP00000371502.3:p.Pro275Ala
NM_001079846.1:c.823C>G	NP_001073315.1:p.Pro275Ala
NM_004380.2:c.823C>G	NP_004371.2:p.Pro275Ala
XM_005255124.3:c.823C>G	XP_005255181.1:p.Pro275Ala
XM_005255125.3:c.823C>G	XP_005255182.1:p.Pro275Ala
XM_006720848.2:c.823C>G	XP_006720911.1:p.Pro275Ala
XM_011522380.1:c.769C>G	XP_011520682.1:p.Pro257Ala
XM_011522381.1:c.70C>G	XP_011520683.1:p.Pro24Ala
XM_011522382.1:c.823C>G	XP_011520684.1:p.Pro275Ala
XM_005255124.4:c.823C>G	XP_005255181.1:p.Pro275Ala
XM_005255125.4:c.823C>G	XP_005255182.1:p.Pro275Ala
XM_006720848.3:c.823C>G	XP_006720911.1:p.Pro275Ala
XM_011522381.2:c.70C>G	XP_011520683.1:p.Pro24Ala
XM_011522382.3:c.823C>G	XP_011520684.1:p.Pro275Ala
XM_017022944.1:c.823C>G	XP_016878433.1:p.Pro275Ala
NM_004380.3:c.823C>G MANE Select	NP_004371.2:p.Pro275Ala