Canonical Allele Identifier: CA394550191

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298212
• MyVariant Identifiers: chr16:g.3777787A>C (hg19) ; chr16:g.3727786A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727786A>C , CM000678.2:g.3727786A>C	GRCh38
NC_000016.9:g.3777787A>C , CM000678.1:g.3777787A>C	GRCh37
NC_000016.8:g.3717788A>C	NCBI36
NG_009873.1:g.157335T>G
NG_009873.2:g.157928T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7261T>G MANE Select	ENSP00000262367.5:p.Ser2421Ala
ENST00000262367.9:c.7261T>G	ENSP00000262367.5:p.Ser2421Ala
ENST00000382070.7:c.7147T>G	ENSP00000371502.3:p.Ser2383Ala
NM_001079846.1:c.7147T>G	NP_001073315.1:p.Ser2383Ala
NM_004380.2:c.7261T>G	NP_004371.2:p.Ser2421Ala
XM_005255124.3:c.7216T>G	XP_005255181.1:p.Ser2406Ala
XM_005255125.3:c.6844T>G	XP_005255182.1:p.Ser2282Ala
XM_006720848.2:c.7000T>G	XP_006720911.1:p.Ser2334Ala
XM_011522380.1:c.7207T>G	XP_011520682.1:p.Ser2403Ala
XM_011522381.1:c.6508T>G	XP_011520683.1:p.Ser2170Ala
XM_005255124.4:c.7216T>G	XP_005255181.1:p.Ser2406Ala
XM_005255125.4:c.6844T>G	XP_005255182.1:p.Ser2282Ala
XM_006720848.3:c.7000T>G	XP_006720911.1:p.Ser2334Ala
XM_011522381.2:c.6508T>G	XP_011520683.1:p.Ser2170Ala
XM_017022944.1:c.7255T>G	XP_016878433.1:p.Ser2419Ala
NM_004380.3:c.7261T>G MANE Select	NP_004371.2:p.Ser2421Ala