Canonical Allele Identifier: CA394553690

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151304885
• MyVariant Identifiers: chr16:g.3778748G>C (hg19) ; chr16:g.3728747G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728747G>C , CM000678.2:g.3728747G>C	GRCh38
NC_000016.9:g.3778748G>C , CM000678.1:g.3778748G>C	GRCh37
NC_000016.8:g.3718749G>C	NCBI36
NG_009873.1:g.156374C>G
NG_009873.2:g.156967C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6300C>G MANE Select	ENSP00000262367.5:p.Phe2100Leu
ENST00000262367.9:c.6300C>G	ENSP00000262367.5:p.Phe2100Leu
ENST00000382070.7:c.6186C>G	ENSP00000371502.3:p.Phe2062Leu
NM_001079846.1:c.6186C>G	NP_001073315.1:p.Phe2062Leu
NM_004380.2:c.6300C>G	NP_004371.2:p.Phe2100Leu
XM_005255124.3:c.6255C>G	XP_005255181.1:p.Phe2085Leu
XM_005255125.3:c.5883C>G	XP_005255182.1:p.Phe1961Leu
XM_006720848.2:c.6039C>G	XP_006720911.1:p.Phe2013Leu
XM_011522380.1:c.6246C>G	XP_011520682.1:p.Phe2082Leu
XM_011522381.1:c.5547C>G	XP_011520683.1:p.Phe1849Leu
XM_005255124.4:c.6255C>G	XP_005255181.1:p.Phe2085Leu
XM_005255125.4:c.5883C>G	XP_005255182.1:p.Phe1961Leu
XM_006720848.3:c.6039C>G	XP_006720911.1:p.Phe2013Leu
XM_011522381.2:c.5547C>G	XP_011520683.1:p.Phe1849Leu
XM_017022944.1:c.6294C>G	XP_016878433.1:p.Phe2098Leu
NM_004380.3:c.6300C>G MANE Select	NP_004371.2:p.Phe2100Leu