Canonical Allele Identifier: CA394551182

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778117G>A (hg19) ; chr16:g.3728116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728116G>A , CM000678.2:g.3728116G>A	GRCh38
NC_000016.9:g.3778117G>A , CM000678.1:g.3778117G>A	GRCh37
NC_000016.8:g.3718118G>A	NCBI36
NG_009873.1:g.157005C>T
NG_009873.2:g.157598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6931C>T MANE Select	ENSP00000262367.5:p.Pro2311Ser
ENST00000262367.9:c.6931C>T	ENSP00000262367.5:p.Pro2311Ser
ENST00000382070.7:c.6817C>T	ENSP00000371502.3:p.Pro2273Ser
NM_001079846.1:c.6817C>T	NP_001073315.1:p.Pro2273Ser
NM_004380.2:c.6931C>T	NP_004371.2:p.Pro2311Ser
XM_005255124.3:c.6886C>T	XP_005255181.1:p.Pro2296Ser
XM_005255125.3:c.6514C>T	XP_005255182.1:p.Pro2172Ser
XM_006720848.2:c.6670C>T	XP_006720911.1:p.Pro2224Ser
XM_011522380.1:c.6877C>T	XP_011520682.1:p.Pro2293Ser
XM_011522381.1:c.6178C>T	XP_011520683.1:p.Pro2060Ser
XM_005255124.4:c.6886C>T	XP_005255181.1:p.Pro2296Ser
XM_005255125.4:c.6514C>T	XP_005255182.1:p.Pro2172Ser
XM_006720848.3:c.6670C>T	XP_006720911.1:p.Pro2224Ser
XM_011522381.2:c.6178C>T	XP_011520683.1:p.Pro2060Ser
XM_017022944.1:c.6925C>T	XP_016878433.1:p.Pro2309Ser
NM_004380.3:c.6931C>T MANE Select	NP_004371.2:p.Pro2311Ser