Canonical Allele Identifier: CA394550812

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299821
• MyVariant Identifiers: chr16:g.3778032A>C (hg19) ; chr16:g.3728031A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728031A>C , CM000678.2:g.3728031A>C	GRCh38
NC_000016.9:g.3778032A>C , CM000678.1:g.3778032A>C	GRCh37
NC_000016.8:g.3718033A>C	NCBI36
NG_009873.1:g.157090T>G
NG_009873.2:g.157683T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7016T>G MANE Select	ENSP00000262367.5:p.Leu2339Arg
ENST00000262367.9:c.7016T>G	ENSP00000262367.5:p.Leu2339Arg
ENST00000382070.7:c.6902T>G	ENSP00000371502.3:p.Leu2301Arg
NM_001079846.1:c.6902T>G	NP_001073315.1:p.Leu2301Arg
NM_004380.2:c.7016T>G	NP_004371.2:p.Leu2339Arg
XM_005255124.3:c.6971T>G	XP_005255181.1:p.Leu2324Arg
XM_005255125.3:c.6599T>G	XP_005255182.1:p.Leu2200Arg
XM_006720848.2:c.6755T>G	XP_006720911.1:p.Leu2252Arg
XM_011522380.1:c.6962T>G	XP_011520682.1:p.Leu2321Arg
XM_011522381.1:c.6263T>G	XP_011520683.1:p.Leu2088Arg
XM_005255124.4:c.6971T>G	XP_005255181.1:p.Leu2324Arg
XM_005255125.4:c.6599T>G	XP_005255182.1:p.Leu2200Arg
XM_006720848.3:c.6755T>G	XP_006720911.1:p.Leu2252Arg
XM_011522381.2:c.6263T>G	XP_011520683.1:p.Leu2088Arg
XM_017022944.1:c.7010T>G	XP_016878433.1:p.Leu2337Arg
NM_004380.3:c.7016T>G MANE Select	NP_004371.2:p.Leu2339Arg