Canonical Allele Identifier: CA394564698

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151336559
• MyVariant Identifiers: chr16:g.3789588G>T (hg19) ; chr16:g.3739587G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739587G>T , CM000678.2:g.3739587G>T	GRCh38
NC_000016.9:g.3789588G>T , CM000678.1:g.3789588G>T	GRCh37
NC_000016.8:g.3729589G>T	NCBI36
NG_009873.1:g.145534C>A
NG_009873.2:g.146127C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4271C>A MANE Select	ENSP00000262367.5:p.Pro1424Gln
ENST00000262367.9:c.4271C>A	ENSP00000262367.5:p.Pro1424Gln
ENST00000382070.7:c.4157C>A	ENSP00000371502.3:p.Pro1386Gln
ENST00000570939.2:c.2906C>A	ENSP00000461002.2:p.Pro969Gln
ENST00000573517.6:c.577C>A
ENST00000574740.1:n.215+812C>A
ENST00000576720.1:n.3208C>A
NM_001079846.1:c.4157C>A	NP_001073315.1:p.Pro1386Gln
NM_004380.2:c.4271C>A	NP_004371.2:p.Pro1424Gln
XM_005255124.3:c.4226C>A	XP_005255181.1:p.Pro1409Gln
XM_005255125.3:c.3854C>A	XP_005255182.1:p.Pro1285Gln
XM_006720848.2:c.4133+812C>A	XP_006720911.1:n.4133+812C>A
XM_011522380.1:c.4217C>A	XP_011520682.1:p.Pro1406Gln
XM_011522381.1:c.3518C>A	XP_011520683.1:p.Pro1173Gln
XM_005255124.4:c.4226C>A	XP_005255181.1:p.Pro1409Gln
XM_005255125.4:c.3854C>A	XP_005255182.1:p.Pro1285Gln
XM_006720848.3:c.4133+812C>A	XP_006720911.1:n.4133+812C>A
XM_011522381.2:c.3518C>A	XP_011520683.1:p.Pro1173Gln
XM_017022944.1:c.4265C>A	XP_016878433.1:p.Pro1422Gln
NM_004380.3:c.4271C>A MANE Select	NP_004371.2:p.Pro1424Gln