Canonical Allele Identifier: CA394556242

Gene: CREBBP

Linked Data

• dbSNP Id: rs1431269013
• gnomAD v2: 16-3779574-A-C
• gnomAD v4: 16-3729573-A-C
• MyVariant Identifiers: chr16:g.3779574A>C (hg19) ; chr16:g.3729573A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729573A>C , CM000678.2:g.3729573A>C	GRCh38
NC_000016.9:g.3779574A>C , CM000678.1:g.3779574A>C	GRCh37
NC_000016.8:g.3719575A>C	NCBI36
NG_009873.1:g.155548T>G
NG_009873.2:g.156141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5474T>G MANE Select	ENSP00000262367.5:p.Leu1825Arg
ENST00000262367.9:c.5474T>G	ENSP00000262367.5:p.Leu1825Arg
ENST00000382070.7:c.5360T>G	ENSP00000371502.3:p.Leu1787Arg
NM_001079846.1:c.5360T>G	NP_001073315.1:p.Leu1787Arg
NM_004380.2:c.5474T>G	NP_004371.2:p.Leu1825Arg
XM_005255124.3:c.5429T>G	XP_005255181.1:p.Leu1810Arg
XM_005255125.3:c.5057T>G	XP_005255182.1:p.Leu1686Arg
XM_006720848.2:c.5213T>G	XP_006720911.1:p.Leu1738Arg
XM_011522380.1:c.5420T>G	XP_011520682.1:p.Leu1807Arg
XM_011522381.1:c.4721T>G	XP_011520683.1:p.Leu1574Arg
XM_005255124.4:c.5429T>G	XP_005255181.1:p.Leu1810Arg
XM_005255125.4:c.5057T>G	XP_005255182.1:p.Leu1686Arg
XM_006720848.3:c.5213T>G	XP_006720911.1:p.Leu1738Arg
XM_011522381.2:c.4721T>G	XP_011520683.1:p.Leu1574Arg
XM_017022944.1:c.5468T>G	XP_016878433.1:p.Leu1823Arg
NM_004380.3:c.5474T>G MANE Select	NP_004371.2:p.Leu1825Arg