Canonical Allele Identifier: CA394556212

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779562T>A (hg19) ; chr16:g.3729561T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729561T>A , CM000678.2:g.3729561T>A	GRCh38
NC_000016.9:g.3779562T>A , CM000678.1:g.3779562T>A	GRCh37
NC_000016.8:g.3719563T>A	NCBI36
NG_009873.1:g.155560A>T
NG_009873.2:g.156153A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5486A>T MANE Select	ENSP00000262367.5:p.His1829Leu
ENST00000262367.9:c.5486A>T	ENSP00000262367.5:p.His1829Leu
ENST00000382070.7:c.5372A>T	ENSP00000371502.3:p.His1791Leu
NM_001079846.1:c.5372A>T	NP_001073315.1:p.His1791Leu
NM_004380.2:c.5486A>T	NP_004371.2:p.His1829Leu
XM_005255124.3:c.5441A>T	XP_005255181.1:p.His1814Leu
XM_005255125.3:c.5069A>T	XP_005255182.1:p.His1690Leu
XM_006720848.2:c.5225A>T	XP_006720911.1:p.His1742Leu
XM_011522380.1:c.5432A>T	XP_011520682.1:p.His1811Leu
XM_011522381.1:c.4733A>T	XP_011520683.1:p.His1578Leu
XM_005255124.4:c.5441A>T	XP_005255181.1:p.His1814Leu
XM_005255125.4:c.5069A>T	XP_005255182.1:p.His1690Leu
XM_006720848.3:c.5225A>T	XP_006720911.1:p.His1742Leu
XM_011522381.2:c.4733A>T	XP_011520683.1:p.His1578Leu
XM_017022944.1:c.5480A>T	XP_016878433.1:p.His1827Leu
NM_004380.3:c.5486A>T MANE Select	NP_004371.2:p.His1829Leu