Canonical Allele Identifier: CA394554861

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 429521
• ClinVar RCV Id: RCV000494620
• dbSNP Id: rs1131691431
• MyVariant Identifiers: chr16:g.3828156T>C (hg19) ; chr16:g.3778155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3778155T>C , CM000678.2:g.3778155T>C	GRCh38
NC_000016.9:g.3828156T>C , CM000678.1:g.3828156T>C	GRCh37
NC_000016.8:g.3768157T>C	NCBI36
NG_009873.1:g.106966A>G
NG_009873.2:g.107559A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.1969A>G MANE Select	ENSP00000262367.5:p.Lys657Glu
ENST00000262367.9:c.1969A>G	ENSP00000262367.5:p.Lys657Glu
ENST00000382070.7:c.1855A>G	ENSP00000371502.3:p.Lys619Glu
ENST00000570939.2:c.574A>G	ENSP00000461002.2:p.Lys192Glu
ENST00000571826.5:c.18A>G
ENST00000572134.1:c.282A>G
ENST00000634839.1:n.131A>G
NM_001079846.1:c.1855A>G	NP_001073315.1:p.Lys619Glu
NM_004380.2:c.1969A>G	NP_004371.2:p.Lys657Glu
XM_005255124.3:c.1969A>G	XP_005255181.1:p.Lys657Glu
XM_005255125.3:c.1969A>G	XP_005255182.1:p.Lys657Glu
XM_006720848.2:c.1969A>G	XP_006720911.1:p.Lys657Glu
XM_011522380.1:c.1915A>G	XP_011520682.1:p.Lys639Glu
XM_011522381.1:c.1216A>G	XP_011520683.1:p.Lys406Glu
XM_011522382.1:c.1969A>G	XP_011520684.1:p.Lys657Glu
XM_005255124.4:c.1969A>G	XP_005255181.1:p.Lys657Glu
XM_005255125.4:c.1969A>G	XP_005255182.1:p.Lys657Glu
XM_006720848.3:c.1969A>G	XP_006720911.1:p.Lys657Glu
XM_011522381.2:c.1216A>G	XP_011520683.1:p.Lys406Glu
XM_011522382.3:c.1969A>G	XP_011520684.1:p.Lys657Glu
XM_017022944.1:c.1969A>G	XP_016878433.1:p.Lys657Glu
NM_004380.3:c.1969A>G MANE Select	NP_004371.2:p.Lys657Glu