Canonical Allele Identifier: CA394564697

Gene: CREBBP

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4271C>G MANE Select	ENSP00000262367.5:p.Pro1424Arg
ENST00000262367.9:c.4271C>G	ENSP00000262367.5:p.Pro1424Arg
ENST00000382070.7:c.4157C>G	ENSP00000371502.3:p.Pro1386Arg
ENST00000570939.2:c.2906C>G	ENSP00000461002.2:p.Pro969Arg
ENST00000573517.6:c.577C>G
ENST00000574740.1:n.215+812C>G
ENST00000576720.1:n.3208C>G
NM_001079846.1:c.4157C>G	NP_001073315.1:p.Pro1386Arg
NM_004380.2:c.4271C>G	NP_004371.2:p.Pro1424Arg
XM_005255124.3:c.4226C>G	XP_005255181.1:p.Pro1409Arg
XM_005255125.3:c.3854C>G	XP_005255182.1:p.Pro1285Arg
XM_006720848.2:c.4133+812C>G	XP_006720911.1:n.4133+812C>G
XM_011522380.1:c.4217C>G	XP_011520682.1:p.Pro1406Arg
XM_011522381.1:c.3518C>G	XP_011520683.1:p.Pro1173Arg
XM_005255124.4:c.4226C>G	XP_005255181.1:p.Pro1409Arg
XM_005255125.4:c.3854C>G	XP_005255182.1:p.Pro1285Arg
XM_006720848.3:c.4133+812C>G	XP_006720911.1:n.4133+812C>G
XM_011522381.2:c.3518C>G	XP_011520683.1:p.Pro1173Arg
XM_017022944.1:c.4265C>G	XP_016878433.1:p.Pro1422Arg
NM_004380.3:c.4271C>G MANE Select	NP_004371.2:p.Pro1424Arg