Canonical Allele Identifier: CA394554437

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3828065G>C (hg19) ; chr16:g.3778064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778064G>C , CM000678.2:g.3778064G>C	GRCh38
NC_000016.9:g.3828065G>C , CM000678.1:g.3828065G>C	GRCh37
NC_000016.8:g.3768066G>C	NCBI36
NG_009873.1:g.107057C>G
NG_009873.2:g.107650C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2060C>G MANE Select	ENSP00000262367.5:p.Ala687Gly
ENST00000262367.9:c.2060C>G	ENSP00000262367.5:p.Ala687Gly
ENST00000382070.7:c.1946C>G	ENSP00000371502.3:p.Ala649Gly
ENST00000570939.2:c.665C>G	ENSP00000461002.2:p.Ala222Gly
ENST00000571826.5:c.109C>G
ENST00000572134.1:c.373C>G
ENST00000634839.1:n.222C>G
NM_001079846.1:c.1946C>G	NP_001073315.1:p.Ala649Gly
NM_004380.2:c.2060C>G	NP_004371.2:p.Ala687Gly
XM_005255124.3:c.2060C>G	XP_005255181.1:p.Ala687Gly
XM_005255125.3:c.2060C>G	XP_005255182.1:p.Ala687Gly
XM_006720848.2:c.2060C>G	XP_006720911.1:p.Ala687Gly
XM_011522380.1:c.2006C>G	XP_011520682.1:p.Ala669Gly
XM_011522381.1:c.1307C>G	XP_011520683.1:p.Ala436Gly
XM_011522382.1:c.2060C>G	XP_011520684.1:p.Ala687Gly
XM_005255124.4:c.2060C>G	XP_005255181.1:p.Ala687Gly
XM_005255125.4:c.2060C>G	XP_005255182.1:p.Ala687Gly
XM_006720848.3:c.2060C>G	XP_006720911.1:p.Ala687Gly
XM_011522381.2:c.1307C>G	XP_011520683.1:p.Ala436Gly
XM_011522382.3:c.2060C>G	XP_011520684.1:p.Ala687Gly
XM_017022944.1:c.2060C>G	XP_016878433.1:p.Ala687Gly
NM_004380.3:c.2060C>G MANE Select	NP_004371.2:p.Ala687Gly