Canonical Allele Identifier: CA394553819

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728803G>T , CM000678.2:g.3728803G>T	GRCh38
NC_000016.9:g.3778804G>T , CM000678.1:g.3778804G>T	GRCh37
NC_000016.8:g.3718805G>T	NCBI36
NG_009873.1:g.156318C>A
NG_009873.2:g.156911C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6244C>A MANE Select	ENSP00000262367.5:p.Gln2082Lys
ENST00000262367.9:c.6244C>A	ENSP00000262367.5:p.Gln2082Lys
ENST00000382070.7:c.6130C>A	ENSP00000371502.3:p.Gln2044Lys
NM_001079846.1:c.6130C>A	NP_001073315.1:p.Gln2044Lys
NM_004380.2:c.6244C>A	NP_004371.2:p.Gln2082Lys
XM_005255124.3:c.6199C>A	XP_005255181.1:p.Gln2067Lys
XM_005255125.3:c.5827C>A	XP_005255182.1:p.Gln1943Lys
XM_006720848.2:c.5983C>A	XP_006720911.1:p.Gln1995Lys
XM_011522380.1:c.6190C>A	XP_011520682.1:p.Gln2064Lys
XM_011522381.1:c.5491C>A	XP_011520683.1:p.Gln1831Lys
XM_005255124.4:c.6199C>A	XP_005255181.1:p.Gln2067Lys
XM_005255125.4:c.5827C>A	XP_005255182.1:p.Gln1943Lys
XM_006720848.3:c.5983C>A	XP_006720911.1:p.Gln1995Lys
XM_011522381.2:c.5491C>A	XP_011520683.1:p.Gln1831Lys
XM_017022944.1:c.6238C>A	XP_016878433.1:p.Gln2080Lys
NM_004380.3:c.6244C>A MANE Select	NP_004371.2:p.Gln2082Lys