Canonical Allele Identifier: CA720724953

Gene: CREBBP

Linked Data

• dbSNP Id: rs1234175929
• gnomAD v4: 16-3736298-T-C
• MyVariant Identifiers: chr16:g.3786299T>C (hg19) ; chr16:g.3736298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736298T>C , CM000678.2:g.3736298T>C	GRCh38
NC_000016.9:g.3786299T>C , CM000678.1:g.3786299T>C	GRCh37
NC_000016.8:g.3726300T>C	NCBI36
NG_009873.1:g.148823A>G
NG_009873.2:g.149416A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4561-95A>G MANE Select	ENSP00000262367.5:n.4561-95A>G
ENST00000262367.9:c.4561-95A>G	ENSP00000262367.5:n.4561-95A>G
ENST00000382070.7:c.4447-95A>G	ENSP00000371502.3:n.4447-95A>G
ENST00000570939.2:c.3196-95A>G	ENSP00000461002.2:n.3196-95A>G
ENST00000571763.5:n.351-95A>G
ENST00000576720.1:n.3384-95A>G
NM_001079846.1:c.4447-95A>G	NP_001073315.1:n.4447-95A>G
NM_004380.2:c.4561-95A>G	NP_004371.2:n.4561-95A>G
XM_005255124.3:c.4516-95A>G	XP_005255181.1:n.4516-95A>G
XM_005255125.3:c.4144-95A>G	XP_005255182.1:n.4144-95A>G
XM_006720848.2:c.4300-95A>G	XP_006720911.1:n.4300-95A>G
XM_011522380.1:c.4507-95A>G	XP_011520682.1:n.4507-95A>G
XM_011522381.1:c.3808-95A>G	XP_011520683.1:n.3808-95A>G
XM_005255124.4:c.4516-95A>G	XP_005255181.1:n.4516-95A>G
XM_005255125.4:c.4144-95A>G	XP_005255182.1:n.4144-95A>G
XM_006720848.3:c.4300-95A>G	XP_006720911.1:n.4300-95A>G
XM_011522381.2:c.3808-95A>G	XP_011520683.1:n.3808-95A>G
XM_017022944.1:c.4555-95A>G	XP_016878433.1:n.4555-95A>G
NM_004380.3:c.4561-95A>G MANE Select	NP_004371.2:n.4561-95A>G