Canonical Allele Identifier: CA394550313

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151298600
• MyVariant Identifiers: chr16:g.3777843T>C (hg19) ; chr16:g.3727842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727842T>C , CM000678.2:g.3727842T>C	GRCh38
NC_000016.9:g.3777843T>C , CM000678.1:g.3777843T>C	GRCh37
NC_000016.8:g.3717844T>C	NCBI36
NG_009873.1:g.157279A>G
NG_009873.2:g.157872A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7205A>G MANE Select	ENSP00000262367.5:p.Asn2402Ser
ENST00000262367.9:c.7205A>G	ENSP00000262367.5:p.Asn2402Ser
ENST00000382070.7:c.7091A>G	ENSP00000371502.3:p.Asn2364Ser
NM_001079846.1:c.7091A>G	NP_001073315.1:p.Asn2364Ser
NM_004380.2:c.7205A>G	NP_004371.2:p.Asn2402Ser
XM_005255124.3:c.7160A>G	XP_005255181.1:p.Asn2387Ser
XM_005255125.3:c.6788A>G	XP_005255182.1:p.Asn2263Ser
XM_006720848.2:c.6944A>G	XP_006720911.1:p.Asn2315Ser
XM_011522380.1:c.7151A>G	XP_011520682.1:p.Asn2384Ser
XM_011522381.1:c.6452A>G	XP_011520683.1:p.Asn2151Ser
XM_005255124.4:c.7160A>G	XP_005255181.1:p.Asn2387Ser
XM_005255125.4:c.6788A>G	XP_005255182.1:p.Asn2263Ser
XM_006720848.3:c.6944A>G	XP_006720911.1:p.Asn2315Ser
XM_011522381.2:c.6452A>G	XP_011520683.1:p.Asn2151Ser
XM_017022944.1:c.7199A>G	XP_016878433.1:p.Asn2400Ser
NM_004380.3:c.7205A>G MANE Select	NP_004371.2:p.Asn2402Ser