Canonical Allele Identifier: CA394568546

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3807815G>T (hg19) ; chr16:g.3757814G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757814G>T , CM000678.2:g.3757814G>T	GRCh38
NC_000016.9:g.3807815G>T , CM000678.1:g.3807815G>T	GRCh37
NC_000016.8:g.3747816G>T	NCBI36
NG_009873.1:g.127307C>A
NG_009873.2:g.127900C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3604C>A MANE Select	ENSP00000262367.5:p.Arg1202Ser
ENST00000262367.9:c.3604C>A	ENSP00000262367.5:p.Arg1202Ser
ENST00000382070.7:c.3490C>A	ENSP00000371502.3:p.Arg1164Ser
ENST00000570939.2:c.2209C>A	ENSP00000461002.2:p.Arg737Ser
NM_001079846.1:c.3490C>A	NP_001073315.1:p.Arg1164Ser
NM_004380.2:c.3604C>A	NP_004371.2:p.Arg1202Ser
XM_005255124.3:c.3559C>A	XP_005255181.1:p.Arg1187Ser
XM_005255125.3:c.3187C>A	XP_005255182.1:p.Arg1063Ser
XM_006720848.2:c.3604C>A	XP_006720911.1:p.Arg1202Ser
XM_011522380.1:c.3550C>A	XP_011520682.1:p.Arg1184Ser
XM_011522381.1:c.2851C>A	XP_011520683.1:p.Arg951Ser
XM_011522382.1:c.3604C>A	XP_011520684.1:p.Arg1202Ser
XM_005255124.4:c.3559C>A	XP_005255181.1:p.Arg1187Ser
XM_005255125.4:c.3187C>A	XP_005255182.1:p.Arg1063Ser
XM_006720848.3:c.3604C>A	XP_006720911.1:p.Arg1202Ser
XM_011522381.2:c.2851C>A	XP_011520683.1:p.Arg951Ser
XM_011522382.3:c.3604C>A	XP_011520684.1:p.Arg1202Ser
XM_017022944.1:c.3598C>A	XP_016878433.1:p.Arg1200Ser
NM_004380.3:c.3604C>A MANE Select	NP_004371.2:p.Arg1202Ser