Canonical Allele Identifier: CA394554525

Gene: CREBBP

Linked Data

• dbSNP Id: rs1434967341
• MyVariant Identifiers: chr16:g.3779017G>C (hg19) ; chr16:g.3729016G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729016G>C , CM000678.2:g.3729016G>C	GRCh38
NC_000016.9:g.3779017G>C , CM000678.1:g.3779017G>C	GRCh37
NC_000016.8:g.3719018G>C	NCBI36
NG_009873.1:g.156105C>G
NG_009873.2:g.156698C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6031C>G MANE Select	ENSP00000262367.5:p.Pro2011Ala
ENST00000262367.9:c.6031C>G	ENSP00000262367.5:p.Pro2011Ala
ENST00000382070.7:c.5917C>G	ENSP00000371502.3:p.Pro1973Ala
NM_001079846.1:c.5917C>G	NP_001073315.1:p.Pro1973Ala
NM_004380.2:c.6031C>G	NP_004371.2:p.Pro2011Ala
XM_005255124.3:c.5986C>G	XP_005255181.1:p.Pro1996Ala
XM_005255125.3:c.5614C>G	XP_005255182.1:p.Pro1872Ala
XM_006720848.2:c.5770C>G	XP_006720911.1:p.Pro1924Ala
XM_011522380.1:c.5977C>G	XP_011520682.1:p.Pro1993Ala
XM_011522381.1:c.5278C>G	XP_011520683.1:p.Pro1760Ala
XM_005255124.4:c.5986C>G	XP_005255181.1:p.Pro1996Ala
XM_005255125.4:c.5614C>G	XP_005255182.1:p.Pro1872Ala
XM_006720848.3:c.5770C>G	XP_006720911.1:p.Pro1924Ala
XM_011522381.2:c.5278C>G	XP_011520683.1:p.Pro1760Ala
XM_017022944.1:c.6025C>G	XP_016878433.1:p.Pro2009Ala
NM_004380.3:c.6031C>G MANE Select	NP_004371.2:p.Pro2011Ala