Canonical Allele Identifier: CA394555983

Gene: CREBBP

Linked Data

• dbSNP Id: rs748640689
• MyVariant Identifiers: chr16:g.3779473G>C (hg19) ; chr16:g.3729472G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729472G>C , CM000678.2:g.3729472G>C	GRCh38
NC_000016.9:g.3779473G>C , CM000678.1:g.3779473G>C	GRCh37
NC_000016.8:g.3719474G>C	NCBI36
NG_009873.1:g.155649C>G
NG_009873.2:g.156242C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5575C>G MANE Select	ENSP00000262367.5:p.Leu1859Val
ENST00000262367.9:c.5575C>G	ENSP00000262367.5:p.Leu1859Val
ENST00000382070.7:c.5461C>G	ENSP00000371502.3:p.Leu1821Val
NM_001079846.1:c.5461C>G	NP_001073315.1:p.Leu1821Val
NM_004380.2:c.5575C>G	NP_004371.2:p.Leu1859Val
XM_005255124.3:c.5530C>G	XP_005255181.1:p.Leu1844Val
XM_005255125.3:c.5158C>G	XP_005255182.1:p.Leu1720Val
XM_006720848.2:c.5314C>G	XP_006720911.1:p.Leu1772Val
XM_011522380.1:c.5521C>G	XP_011520682.1:p.Leu1841Val
XM_011522381.1:c.4822C>G	XP_011520683.1:p.Leu1608Val
XM_005255124.4:c.5530C>G	XP_005255181.1:p.Leu1844Val
XM_005255125.4:c.5158C>G	XP_005255182.1:p.Leu1720Val
XM_006720848.3:c.5314C>G	XP_006720911.1:p.Leu1772Val
XM_011522381.2:c.4822C>G	XP_011520683.1:p.Leu1608Val
XM_017022944.1:c.5569C>G	XP_016878433.1:p.Leu1857Val
NM_004380.3:c.5575C>G MANE Select	NP_004371.2:p.Leu1859Val