Canonical Allele Identifier: CA394556128

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3779527G>T (hg19) ; chr16:g.3729526G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729526G>T , CM000678.2:g.3729526G>T	GRCh38
NC_000016.9:g.3779527G>T , CM000678.1:g.3779527G>T	GRCh37
NC_000016.8:g.3719528G>T	NCBI36
NG_009873.1:g.155595C>A
NG_009873.2:g.156188C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5521C>A MANE Select	ENSP00000262367.5:p.Pro1841Thr
ENST00000262367.9:c.5521C>A	ENSP00000262367.5:p.Pro1841Thr
ENST00000382070.7:c.5407C>A	ENSP00000371502.3:p.Pro1803Thr
NM_001079846.1:c.5407C>A	NP_001073315.1:p.Pro1803Thr
NM_004380.2:c.5521C>A	NP_004371.2:p.Pro1841Thr
XM_005255124.3:c.5476C>A	XP_005255181.1:p.Pro1826Thr
XM_005255125.3:c.5104C>A	XP_005255182.1:p.Pro1702Thr
XM_006720848.2:c.5260C>A	XP_006720911.1:p.Pro1754Thr
XM_011522380.1:c.5467C>A	XP_011520682.1:p.Pro1823Thr
XM_011522381.1:c.4768C>A	XP_011520683.1:p.Pro1590Thr
XM_005255124.4:c.5476C>A	XP_005255181.1:p.Pro1826Thr
XM_005255125.4:c.5104C>A	XP_005255182.1:p.Pro1702Thr
XM_006720848.3:c.5260C>A	XP_006720911.1:p.Pro1754Thr
XM_011522381.2:c.4768C>A	XP_011520683.1:p.Pro1590Thr
XM_017022944.1:c.5515C>A	XP_016878433.1:p.Pro1839Thr
NM_004380.3:c.5521C>A MANE Select	NP_004371.2:p.Pro1841Thr