Canonical Allele Identifier: CA394550863

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299909
• gnomAD v4: 16-3728044-T-A
• MyVariant Identifiers: chr16:g.3778045T>A (hg19) ; chr16:g.3728044T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728044T>A , CM000678.2:g.3728044T>A	GRCh38
NC_000016.9:g.3778045T>A , CM000678.1:g.3778045T>A	GRCh37
NC_000016.8:g.3718046T>A	NCBI36
NG_009873.1:g.157077A>T
NG_009873.2:g.157670A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7003A>T MANE Select	ENSP00000262367.5:p.Ile2335Phe
ENST00000262367.9:c.7003A>T	ENSP00000262367.5:p.Ile2335Phe
ENST00000382070.7:c.6889A>T	ENSP00000371502.3:p.Ile2297Phe
NM_001079846.1:c.6889A>T	NP_001073315.1:p.Ile2297Phe
NM_004380.2:c.7003A>T	NP_004371.2:p.Ile2335Phe
XM_005255124.3:c.6958A>T	XP_005255181.1:p.Ile2320Phe
XM_005255125.3:c.6586A>T	XP_005255182.1:p.Ile2196Phe
XM_006720848.2:c.6742A>T	XP_006720911.1:p.Ile2248Phe
XM_011522380.1:c.6949A>T	XP_011520682.1:p.Ile2317Phe
XM_011522381.1:c.6250A>T	XP_011520683.1:p.Ile2084Phe
XM_005255124.4:c.6958A>T	XP_005255181.1:p.Ile2320Phe
XM_005255125.4:c.6586A>T	XP_005255182.1:p.Ile2196Phe
XM_006720848.3:c.6742A>T	XP_006720911.1:p.Ile2248Phe
XM_011522381.2:c.6250A>T	XP_011520683.1:p.Ile2084Phe
XM_017022944.1:c.6997A>T	XP_016878433.1:p.Ile2333Phe
NM_004380.3:c.7003A>T MANE Select	NP_004371.2:p.Ile2335Phe