Canonical Allele Identifier: CA394556005

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151309864
• MyVariant Identifiers: chr16:g.3779483G>C (hg19) ; chr16:g.3729482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729482G>C , CM000678.2:g.3729482G>C	GRCh38
NC_000016.9:g.3779483G>C , CM000678.1:g.3779483G>C	GRCh37
NC_000016.8:g.3719484G>C	NCBI36
NG_009873.1:g.155639C>G
NG_009873.2:g.156232C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5565C>G MANE Select	ENSP00000262367.5:p.Ile1855Met
ENST00000262367.9:c.5565C>G	ENSP00000262367.5:p.Ile1855Met
ENST00000382070.7:c.5451C>G	ENSP00000371502.3:p.Ile1817Met
NM_001079846.1:c.5451C>G	NP_001073315.1:p.Ile1817Met
NM_004380.2:c.5565C>G	NP_004371.2:p.Ile1855Met
XM_005255124.3:c.5520C>G	XP_005255181.1:p.Ile1840Met
XM_005255125.3:c.5148C>G	XP_005255182.1:p.Ile1716Met
XM_006720848.2:c.5304C>G	XP_006720911.1:p.Ile1768Met
XM_011522380.1:c.5511C>G	XP_011520682.1:p.Ile1837Met
XM_011522381.1:c.4812C>G	XP_011520683.1:p.Ile1604Met
XM_005255124.4:c.5520C>G	XP_005255181.1:p.Ile1840Met
XM_005255125.4:c.5148C>G	XP_005255182.1:p.Ile1716Met
XM_006720848.3:c.5304C>G	XP_006720911.1:p.Ile1768Met
XM_011522381.2:c.4812C>G	XP_011520683.1:p.Ile1604Met
XM_017022944.1:c.5559C>G	XP_016878433.1:p.Ile1853Met
NM_004380.3:c.5565C>G MANE Select	NP_004371.2:p.Ile1855Met