Canonical Allele Identifier: CA394556431

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151310875
• MyVariant Identifiers: chr16:g.3779617T>C (hg19) ; chr16:g.3729616T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729616T>C , CM000678.2:g.3729616T>C	GRCh38
NC_000016.9:g.3779617T>C , CM000678.1:g.3779617T>C	GRCh37
NC_000016.8:g.3719618T>C	NCBI36
NG_009873.1:g.155505A>G
NG_009873.2:g.156098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5431A>G MANE Select	ENSP00000262367.5:p.Lys1811Glu
ENST00000262367.9:c.5431A>G	ENSP00000262367.5:p.Lys1811Glu
ENST00000382070.7:c.5317A>G	ENSP00000371502.3:p.Lys1773Glu
NM_001079846.1:c.5317A>G	NP_001073315.1:p.Lys1773Glu
NM_004380.2:c.5431A>G	NP_004371.2:p.Lys1811Glu
XM_005255124.3:c.5386A>G	XP_005255181.1:p.Lys1796Glu
XM_005255125.3:c.5014A>G	XP_005255182.1:p.Lys1672Glu
XM_006720848.2:c.5170A>G	XP_006720911.1:p.Lys1724Glu
XM_011522380.1:c.5377A>G	XP_011520682.1:p.Lys1793Glu
XM_011522381.1:c.4678A>G	XP_011520683.1:p.Lys1560Glu
XM_005255124.4:c.5386A>G	XP_005255181.1:p.Lys1796Glu
XM_005255125.4:c.5014A>G	XP_005255182.1:p.Lys1672Glu
XM_006720848.3:c.5170A>G	XP_006720911.1:p.Lys1724Glu
XM_011522381.2:c.4678A>G	XP_011520683.1:p.Lys1560Glu
XM_017022944.1:c.5425A>G	XP_016878433.1:p.Lys1809Glu
NM_004380.3:c.5431A>G MANE Select	NP_004371.2:p.Lys1811Glu