Canonical Allele Identifier: CA394551087

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300261
• COSMIC: COSM1290518
• MyVariant Identifiers: chr16:g.3778096G>C (hg19) ; chr16:g.3728095G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728095G>C , CM000678.2:g.3728095G>C	GRCh38
NC_000016.9:g.3778096G>C , CM000678.1:g.3778096G>C	GRCh37
NC_000016.8:g.3718097G>C	NCBI36
NG_009873.1:g.157026C>G
NG_009873.2:g.157619C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6952C>G MANE Select	ENSP00000262367.5:p.Gln2318Glu
ENST00000262367.9:c.6952C>G	ENSP00000262367.5:p.Gln2318Glu
ENST00000382070.7:c.6838C>G	ENSP00000371502.3:p.Gln2280Glu
NM_001079846.1:c.6838C>G	NP_001073315.1:p.Gln2280Glu
NM_004380.2:c.6952C>G	NP_004371.2:p.Gln2318Glu
XM_005255124.3:c.6907C>G	XP_005255181.1:p.Gln2303Glu
XM_005255125.3:c.6535C>G	XP_005255182.1:p.Gln2179Glu
XM_006720848.2:c.6691C>G	XP_006720911.1:p.Gln2231Glu
XM_011522380.1:c.6898C>G	XP_011520682.1:p.Gln2300Glu
XM_011522381.1:c.6199C>G	XP_011520683.1:p.Gln2067Glu
XM_005255124.4:c.6907C>G	XP_005255181.1:p.Gln2303Glu
XM_005255125.4:c.6535C>G	XP_005255182.1:p.Gln2179Glu
XM_006720848.3:c.6691C>G	XP_006720911.1:p.Gln2231Glu
XM_011522381.2:c.6199C>G	XP_011520683.1:p.Gln2067Glu
XM_017022944.1:c.6946C>G	XP_016878433.1:p.Gln2316Glu
NM_004380.3:c.6952C>G MANE Select	NP_004371.2:p.Gln2318Glu