Canonical Allele Identifier: CA394550763

Gene: CREBBP

Linked Data

• dbSNP Id: rs1464234725
• gnomAD v2: 16-3820663-G-C
• gnomAD v3: 16-3770662-G-C
• gnomAD v4: 16-3770662-G-C
• MyVariant Identifiers: chr16:g.3820663G>C (hg19) ; chr16:g.3770662G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770662G>C , CM000678.2:g.3770662G>C	GRCh38
NC_000016.9:g.3820663G>C , CM000678.1:g.3820663G>C	GRCh37
NC_000016.8:g.3760664G>C	NCBI36
NG_009873.1:g.114459C>G
NG_009873.2:g.115052C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2788C>G MANE Select	ENSP00000262367.5:p.Pro930Ala
ENST00000262367.9:c.2788C>G	ENSP00000262367.5:p.Pro930Ala
ENST00000382070.7:c.2674C>G	ENSP00000371502.3:p.Pro892Ala
ENST00000570939.2:c.1393C>G	ENSP00000461002.2:p.Pro465Ala
ENST00000573672.1:n.42C>G
NM_001079846.1:c.2674C>G	NP_001073315.1:p.Pro892Ala
NM_004380.2:c.2788C>G	NP_004371.2:p.Pro930Ala
XM_005255124.3:c.2743C>G	XP_005255181.1:p.Pro915Ala
XM_005255125.3:c.2464-1309C>G	XP_005255182.1:n.2464-1309C>G
XM_006720848.2:c.2788C>G	XP_006720911.1:p.Pro930Ala
XM_011522380.1:c.2734C>G	XP_011520682.1:p.Pro912Ala
XM_011522381.1:c.2035C>G	XP_011520683.1:p.Pro679Ala
XM_011522382.1:c.2788C>G	XP_011520684.1:p.Pro930Ala
XM_005255124.4:c.2743C>G	XP_005255181.1:p.Pro915Ala
XM_005255125.4:c.2464-1309C>G	XP_005255182.1:n.2464-1309C>G
XM_006720848.3:c.2788C>G	XP_006720911.1:p.Pro930Ala
XM_011522381.2:c.2035C>G	XP_011520683.1:p.Pro679Ala
XM_011522382.3:c.2788C>G	XP_011520684.1:p.Pro930Ala
XM_017022944.1:c.2782C>G	XP_016878433.1:p.Pro928Ala
NM_004380.3:c.2788C>G MANE Select	NP_004371.2:p.Pro930Ala