Canonical Allele Identifier: CA394553858

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305380
• MyVariant Identifiers: chr16:g.3778822A>T (hg19) ; chr16:g.3728821A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728821A>T , CM000678.2:g.3728821A>T	GRCh38
NC_000016.9:g.3778822A>T , CM000678.1:g.3778822A>T	GRCh37
NC_000016.8:g.3718823A>T	NCBI36
NG_009873.1:g.156300T>A
NG_009873.2:g.156893T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6226T>A MANE Select	ENSP00000262367.5:p.Ser2076Thr
ENST00000262367.9:c.6226T>A	ENSP00000262367.5:p.Ser2076Thr
ENST00000382070.7:c.6112T>A	ENSP00000371502.3:p.Ser2038Thr
NM_001079846.1:c.6112T>A	NP_001073315.1:p.Ser2038Thr
NM_004380.2:c.6226T>A	NP_004371.2:p.Ser2076Thr
XM_005255124.3:c.6181T>A	XP_005255181.1:p.Ser2061Thr
XM_005255125.3:c.5809T>A	XP_005255182.1:p.Ser1937Thr
XM_006720848.2:c.5965T>A	XP_006720911.1:p.Ser1989Thr
XM_011522380.1:c.6172T>A	XP_011520682.1:p.Ser2058Thr
XM_011522381.1:c.5473T>A	XP_011520683.1:p.Ser1825Thr
XM_005255124.4:c.6181T>A	XP_005255181.1:p.Ser2061Thr
XM_005255125.4:c.5809T>A	XP_005255182.1:p.Ser1937Thr
XM_006720848.3:c.5965T>A	XP_006720911.1:p.Ser1989Thr
XM_011522381.2:c.5473T>A	XP_011520683.1:p.Ser1825Thr
XM_017022944.1:c.6220T>A	XP_016878433.1:p.Ser2074Thr
NM_004380.3:c.6226T>A MANE Select	NP_004371.2:p.Ser2076Thr